Renal Agenesis

Congenital MONDO:0018470 Pathograph 4 Show in embeddings browser Congenital anomaly of the kidney and urinary tract

Renal agenesis is a congenital anomaly of the kidney and urinary tract (CAKUT) defined by complete failure of development of one (unilateral) or both (bilateral) kidneys, accompanied by absence of the corresponding ureter(s). It arises from failed reciprocal induction between the ureteric bud and the metanephric mesenchyme during the fifth week of human gestation, most often from defective RET-GDNF, PAX2, GREB1L, ITGA8, or FGF20 signaling. Unilateral renal agenesis is frequently asymptomatic with compensatory hypertrophy of the solitary kidney, whereas bilateral renal agenesis abolishes fetal urine output, producing severe oligohydramnios and the deformation cascade of Potter sequence (pulmonary hypoplasia, characteristic facies, and limb contractures) that is almost uniformly lethal at or shortly after birth.

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2
Inheritance
4
Pathophys.
6
Phenotypes
4
Pathograph
5
Genes
5
Medical Actions
3
Subtypes
1
Deep Research
👪

Inheritance

2
Autosomal dominant inheritance HP:0000006
Several monogenic forms of renal agenesis are transmitted as autosomal dominant traits with incomplete penetrance and variable expressivity, including GREB1L- and RET-related CAKUT, in which heterozygous variants are sufficient to cause disease.
Autosomal dominant inheritance
Show evidence (1 reference)
PMID:29100091 SUPPORT Human Clinical
"fetuses with BKA, led to the identification of 16 heterozygous variants in GREB1L"
Heterozygous GREB1L variants causing bilateral kidney agenesis establish an autosomal dominant (monoallelic) mode of inheritance for GREB1L-related renal agenesis.
Autosomal recessive inheritance HP:0000007
Other forms of renal agenesis are autosomal recessive, requiring biallelic loss-of-function variants, as established for ITGA8- and FGF20-related bilateral renal agenesis.
Autosomal recessive inheritance
Show evidence (1 reference)
PMID:24439109 SUPPORT Human Clinical
"These results demonstrate that mutations of ITGA8 are a genetic cause of bilateral renal agenesis and that, at least in some cases, bilateral renal agenesis is an autosomal-recessive disease."
Recessive ITGA8 mutations causing bilateral renal agenesis establish an autosomal recessive mode of inheritance for this form of CAKUT.
◆

Subtypes

3
Unilateral Renal Agenesis (URA)
Congenital absence of a single kidney with a normal contralateral kidney. Frequently asymptomatic and detected incidentally; the solitary kidney undergoes compensatory hypertrophy. Associated with increased lifetime risk of hypertension, proteinuria, and chronic kidney disease, and with ipsilateral genital tract anomalies.
Bilateral Renal Agenesis (Potter Sequence)
Congenital absence of both kidneys, abolishing fetal urine production. The resulting severe oligohydramnios causes the Potter sequence of pulmonary hypoplasia, Potter facies, and limb deformation, and is almost uniformly lethal in the perinatal period.
Syndromic / Gene-linked Renal Agenesis
Renal agenesis occurring as part of a monogenic syndrome or attributable to a defined developmental gene, including GREB1L-, RET-, PAX2-, ITGA8-, and FGF20-related CAKUT, as well as renal coloboma syndrome and branchio-oto-renal spectrum disorders.
⚙

Pathophysiology

4
Failed ureteric bud outgrowth and metanephric induction
Renal agenesis originates from failure of the reciprocal inductive interaction between the ureteric bud and the metanephric mesenchyme. GDNF secreted by the metanephric mesenchyme signals through the RET receptor tyrosine kinase on the ureteric bud to drive bud outgrowth and branching; loss of GDNF-RET signaling, or of upstream regulators such as PAX2, GREB1L, ITGA8, and FGF20, prevents bud outgrowth or invasion of the mesenchyme, so the metanephros never forms.
ureteric bud cell CL:4030066
ureteric bud development GO:0001657 ∅ ABSENT metanephric mesenchyme development GO:0072075 ⚠ ABNORMAL GDNF receptor signaling GO:0035860 ↓ DECREASED
Downstream
Absent kidney and ureter Failed induction means the metanephros and its collecting system never develop.
Show evidence (3 references)
PMID:11937757 SUPPORT Human Clinical
"Once it has formed, the mesenchyme secretes GDNF; this induces the nearby wolffian duct to produce a ureteric bud which invades the metanephrogenic mesenchyme and begins to arborize."
This developmental review describes the GDNF-driven reciprocal induction between the metanephric mesenchyme and the ureteric bud whose failure produces renal agenesis.
PMID:16822174 SUPPORT Human Clinical
"Ureteric bud outgrowth and branching morphogenesis are controlled by the Ret/Gdnf pathway, which is subject to positive and negative regulation by a variety of factors."
Confirms that ureteric bud outgrowth, the step that fails in renal agenesis, depends on the Ret/Gdnf signaling pathway.
PMID:11937757 SUPPORT Human Clinical
"this event depends on the prior action in the intermediate mesoderm of transcription factors such as Lim-1, Pax-2, Eya-1, and Foxc-1."
Identifies the upstream transcription factors (including Pax-2) required for metanephric mesenchyme formation, mutations of which cause renal agenesis/hypodysplasia.
Absent kidney and ureter
Because the ureteric bud and metanephric mesenchyme fail to form a kidney, the affected side has no functioning renal tissue and no ureter. In unilateral disease the contralateral kidney undergoes compensatory hypertrophy and hyperfiltration; in bilateral disease there is no functional renal mass.
kidney development GO:0001822 ∅ ABSENT metanephros development GO:0001656 ∅ ABSENT
Downstream
Oligohydramnios and Potter sequence In bilateral agenesis, absent fetal urine output leads to oligohydramnios.
Show evidence (1 reference)
PMID:28739660 SUPPORT Human Clinical
"Bilateral renal agenesis is almost invariably fatal at birth, and unilateral renal agenesis can lead to future health issues including end-stage renal disease."
Establishes the two anatomical forms of absent kidney and their divergent clinical consequences.
Oligohydramnios and Potter sequence
Fetal urine is the major source of amniotic fluid in the second half of gestation. In bilateral renal agenesis the absence of urine output produces severe oligohydramnios, which mechanically compresses the fetus. The resulting deformation cascade is the Potter sequence: pulmonary hypoplasia (the usual cause of neonatal death), Potter facies, and limb contractures.
lung development GO:0030324 ⚠ ABNORMAL
Downstream
Perinatal respiratory failure Pulmonary hypoplasia leads to fatal respiratory insufficiency at birth.
Show evidence (1 reference)
PMID:32516788 SUPPORT Human Clinical
"Bilateral renal agenesis (BRA) is a lethal diagnosis, specifically meaning that natural survival beyond birth is not expected secondary to pulmonary hypoplasia."
Directly links bilateral renal agenesis (via oligohydramnios) to lethal pulmonary hypoplasia, the Potter sequence consequence.
Perinatal respiratory failure
Pulmonary hypoplasia from oligohydramnios in bilateral renal agenesis leaves insufficient functional lung tissue for gas exchange, causing respiratory failure that is the proximate cause of death in most affected neonates.
respiratory gaseous exchange GO:0007585 ⚠ ABNORMAL
Show evidence (1 reference)
PMID:32516788 SUPPORT Human Clinical
"Fetal intervention via amnioinfusion may promote pulmonary survivorship after birth, but postnatal survival remains poor."
The largest contemporary BRA series shows that even with amnioinfusion to restore amniotic fluid, postnatal survival remains poor because of the pulmonary consequences of oligohydramnios.
⬡

Pathograph

Use the checkboxes to hide or show graph categories. Hover nodes for evidence and cross-linked metadata.
Pathograph: causal mechanism network for Renal Agenesis Interactive directed graph showing how pathophysiology mechanisms, phenotypes, genetic factors and variants, experimental models, environmental triggers, and treatments relate through causal and linked edges.
●

Phenotypes

6
Prenatal and Birth 1
Oligohydramnios Oligohydramnios HP:0001562
Show evidence (1 reference)
PMID:31098643 SUPPORT Human Clinical
"Bilateral renal agenesis with oligohydramnios/anhydramnios is associated with a poor prognosis; perinatal death occurs secondary to pulmonary hypoplasia in the majority of cases."
Confirms that bilateral renal agenesis produces oligohydramnios/anhydramnios and that the resulting pulmonary hypoplasia drives perinatal death.
Respiratory 1
Pulmonary hypoplasia Pulmonary hypoplasia HP:0002089
Show evidence (1 reference)
PMID:32516788 SUPPORT Human Clinical
"Bilateral renal agenesis (BRA) is a lethal diagnosis, specifically meaning that natural survival beyond birth is not expected secondary to pulmonary hypoplasia."
Identifies pulmonary hypoplasia as the lethal consequence of bilateral renal agenesis.
Other 4
Renal agenesis Renal agenesis HP:0000104
Unilateral renal agenesis Unilateral renal agenesis HP:0000122
Show evidence (1 reference)
PMID:33954810 SUPPORT Human Clinical
"Independent risk factors for chronic kidney injury included CAKUT (OR 5.01, p=0.002) and URA (OR 2.71, p=0.04)."
This solitary-functioning-kidney cohort identifies unilateral renal agenesis as an independent risk factor for chronic kidney injury (hypertension, proteinuria, or reduced eGFR).
Bilateral renal agenesis Bilateral renal agenesis HP:0010958
Show evidence (1 reference)
PMID:28739660 SUPPORT Human Clinical
"Bilateral renal agenesis is almost invariably fatal at birth, and unilateral renal agenesis can lead to future health issues including end-stage renal disease."
Documents that bilateral renal agenesis is almost invariably fatal at birth.
Potter facies Potter facies HP:0002009
🧬

Genetic Associations

5
GREB1L (Autosomal dominant renal agenesis / severe CAKUT)
Gene: GREB1L hgnc:31042
Show evidence (2 references)
PMID:29100091 SUPPORT Human Clinical
"This demonstrates that GREB1L plays a major role in early metanephros and genital development in mice and humans."
Identifies heterozygous GREB1L variants as a cause of bilateral kidney agenesis in humans, supported by a Greb1l knockout mouse with absent kidneys.
PMID:28739660 SUPPORT Human Clinical
"This study is the first to associate a component of the RAR pathway with renal agenesis in humans."
Independently identifies GREB1L (a retinoic-acid-receptor pathway component) as a novel human renal agenesis gene.
RET (Ureteric bud outgrowth signaling / CAKUT)
Gene: RET hgnc:9967
PAX2 (Renal coloboma syndrome / renal hypoplasia-agenesis)
Gene: PAX2 hgnc:8616
Show evidence (1 reference)
PMID:22660956 SUPPORT Human Clinical
"Renal coloboma syndrome (RCS) is a highly variable syndrome characterized by renal and ocular abnormalities. It is associated in about 50 % of cases with mutations of PAX2, a gene encoding a transcription factor required during development."
Confirms PAX2 as the transcription-factor gene mutated in renal coloboma syndrome, the spectrum that includes renal hypoplasia/agenesis.
ITGA8 (Bilateral renal agenesis / renal hypodysplasia)
Gene: ITGA8 hgnc:6144
Show evidence (2 references)
PMID:24439109 SUPPORT Human Clinical
"These results demonstrate that mutations of ITGA8 are a genetic cause of bilateral renal agenesis and that, at least in some cases, bilateral renal agenesis is an autosomal-recessive disease."
Identifies recessive ITGA8 mutations as a cause of bilateral renal agenesis in humans.
PMID:24439109 SUPPORT Model Organism
"Itga8 homozygous knockout in mice is known to result in absence of kidney development."
The mouse Itga8 knockout recapitulates absent kidney development, supporting ITGA8's role in renal agenesis.
FGF20 (Bilateral renal agenesis)
Gene: FGF20 hgnc:3677
Show evidence (1 reference)
PMID:22698282 SUPPORT Human Clinical
"Loss of FGF20 in humans, or of both ligands in mice, resulted in kidney agenesis."
Demonstrates that loss of FGF20, which maintains nephron progenitor stemness, causes kidney agenesis in humans.
💊

Medical Actions

5
Dialysis
Action: renal dialysis MAXO:0000601
Renal replacement therapy to support survivors of bilateral renal agenesis or those with renal failure; rarely feasible in classic bilateral agenesis given perinatal lethality.
Kidney transplantation
Action: kidney transplantation Ontology label: whole kidney transplantation MAXO:0010043
Definitive renal replacement for survivors who reach candidacy.
Nephroprotective surveillance of the solitary kidney
Action: supportive care MAXO:0000950
Long-term monitoring of blood pressure, proteinuria, and renal function in unilateral renal agenesis to detect and manage chronic kidney disease.
Genetic counseling
Action: Genetic Counseling NCIT:C15240
Counseling for families with monogenic (autosomal dominant or recessive) renal agenesis to convey recurrence risk and inform reproductive decision-making, particularly for the GREB1L-, RET-, PAX2-, ITGA8-, and FGF20-related syndromic forms.
Serial amnioinfusion
Action: therapeutic procedure of amniotic fluid MAXO:0001425
Experimental fetal therapy for isolated bilateral renal agenesis in which serial infusions of fluid into the amniotic cavity restore amniotic fluid volume in an attempt to mitigate the pulmonary hypoplasia caused by oligohydramnios. Postnatal survival remains poor.
Show evidence (1 reference)
PMID:32516788 SUPPORT Human Clinical
"Fetal intervention via amnioinfusion may promote pulmonary survivorship after birth, but postnatal survival remains poor."
The largest contemporary BRA series reports serial amnioinfusion as a fetal intervention that may promote pulmonary survivorship, though postnatal survival remains poor.
{ }

Source YAML

click to show 
name: Renal Agenesis
creation_date: "2026-06-08T00:00:00Z"
description: >-
  Renal agenesis is a congenital anomaly of the kidney and urinary tract (CAKUT)
  defined by complete failure of development of one (unilateral) or both
  (bilateral) kidneys, accompanied by absence of the corresponding ureter(s). It
  arises from failed reciprocal induction between the ureteric bud and the
  metanephric mesenchyme during the fifth week of human gestation, most often
  from defective RET-GDNF, PAX2, GREB1L, ITGA8, or FGF20 signaling. Unilateral
  renal agenesis is frequently asymptomatic with compensatory hypertrophy of the
  solitary kidney, whereas bilateral renal agenesis abolishes fetal urine output,
  producing severe oligohydramnios and the deformation cascade of Potter sequence
  (pulmonary hypoplasia, characteristic facies, and limb contractures) that is
  almost uniformly lethal at or shortly after birth.
category: Congenital
disease_term:
  preferred_term: renal agenesis
  term:
    id: MONDO:0018470
    label: renal agenesis
parents:
- Congenital anomaly of the kidney and urinary tract
synonyms:
- Renal aplasia
- Kidney agenesis
- Absent kidney
has_subtypes:
- name: Unilateral
  display_name: Unilateral Renal Agenesis (URA)
  description: >-
    Congenital absence of a single kidney with a normal contralateral kidney.
    Frequently asymptomatic and detected incidentally; the solitary kidney
    undergoes compensatory hypertrophy. Associated with increased lifetime risk
    of hypertension, proteinuria, and chronic kidney disease, and with
    ipsilateral genital tract anomalies.
- name: Bilateral
  display_name: Bilateral Renal Agenesis (Potter Sequence)
  description: >-
    Congenital absence of both kidneys, abolishing fetal urine production. The
    resulting severe oligohydramnios causes the Potter sequence of pulmonary
    hypoplasia, Potter facies, and limb deformation, and is almost uniformly
    lethal in the perinatal period.
- name: Syndromic
  display_name: Syndromic / Gene-linked Renal Agenesis
  description: >-
    Renal agenesis occurring as part of a monogenic syndrome or attributable to
    a defined developmental gene, including GREB1L-, RET-, PAX2-, ITGA8-, and
    FGF20-related CAKUT, as well as renal coloboma syndrome and branchio-oto-renal
    spectrum disorders.
pathophysiology:
- name: Failed ureteric bud outgrowth and metanephric induction
  description: >-
    Renal agenesis originates from failure of the reciprocal inductive interaction
    between the ureteric bud and the metanephric mesenchyme. GDNF secreted by the
    metanephric mesenchyme signals through the RET receptor tyrosine kinase on the
    ureteric bud to drive bud outgrowth and branching; loss of GDNF-RET signaling,
    or of upstream regulators such as PAX2, GREB1L, ITGA8, and FGF20, prevents bud
    outgrowth or invasion of the mesenchyme, so the metanephros never forms.
  cell_types:
  - preferred_term: ureteric bud cell
    term:
      id: CL:4030066
      label: ureteric bud cell
  biological_processes:
  - preferred_term: ureteric bud development
    modifier: ABSENT
    term:
      id: GO:0001657
      label: ureteric bud development
  - preferred_term: metanephric mesenchyme development
    modifier: ABNORMAL
    term:
      id: GO:0072075
      label: metanephric mesenchyme development
  - preferred_term: GDNF receptor signaling
    modifier: DECREASED
    term:
      id: GO:0035860
      label: glial cell-derived neurotrophic factor receptor signaling pathway
  evidence:
  - reference: PMID:11937757
    reference_title: Genes and proteins in renal development.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Once it has formed, the mesenchyme secretes GDNF; this induces the nearby wolffian duct to produce a ureteric bud which invades the metanephrogenic mesenchyme and begins to arborize.
    explanation: >-
      This developmental review describes the GDNF-driven reciprocal induction
      between the metanephric mesenchyme and the ureteric bud whose failure
      produces renal agenesis.
  - reference: PMID:16822174
    reference_title: The cellular basis of kidney development.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Ureteric bud outgrowth and branching morphogenesis are controlled by the Ret/Gdnf pathway, which is subject to positive and negative regulation by a variety of factors.
    explanation: >-
      Confirms that ureteric bud outgrowth, the step that fails in renal
      agenesis, depends on the Ret/Gdnf signaling pathway.
  - reference: PMID:11937757
    reference_title: Genes and proteins in renal development.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      this event depends on the prior action in the intermediate mesoderm of transcription factors such as Lim-1, Pax-2, Eya-1, and Foxc-1.
    explanation: >-
      Identifies the upstream transcription factors (including Pax-2) required
      for metanephric mesenchyme formation, mutations of which cause renal
      agenesis/hypodysplasia.
  downstream:
  - target: Absent kidney and ureter
    description: Failed induction means the metanephros and its collecting system never develop.
- name: Absent kidney and ureter
  description: >-
    Because the ureteric bud and metanephric mesenchyme fail to form a kidney,
    the affected side has no functioning renal tissue and no ureter. In unilateral
    disease the contralateral kidney undergoes compensatory hypertrophy and
    hyperfiltration; in bilateral disease there is no functional renal mass.
  biological_processes:
  - preferred_term: kidney development
    modifier: ABSENT
    term:
      id: GO:0001822
      label: kidney development
  - preferred_term: metanephros development
    modifier: ABSENT
    term:
      id: GO:0001656
      label: metanephros development
  evidence:
  - reference: PMID:28739660
    reference_title: A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Bilateral renal agenesis is almost invariably fatal at birth, and unilateral renal agenesis can lead to future health issues including end-stage renal disease.
    explanation: >-
      Establishes the two anatomical forms of absent kidney and their divergent
      clinical consequences.
  downstream:
  - target: Oligohydramnios and Potter sequence
    description: In bilateral agenesis, absent fetal urine output leads to oligohydramnios.
- name: Oligohydramnios and Potter sequence
  description: >-
    Fetal urine is the major source of amniotic fluid in the second half of
    gestation. In bilateral renal agenesis the absence of urine output produces
    severe oligohydramnios, which mechanically compresses the fetus. The resulting
    deformation cascade is the Potter sequence: pulmonary hypoplasia (the usual
    cause of neonatal death), Potter facies, and limb contractures.
  biological_processes:
  - preferred_term: lung development
    modifier: ABNORMAL
    term:
      id: GO:0030324
      label: lung development
  evidence:
  - reference: PMID:32516788
    reference_title: Contemporary Outcomes of Patients with Isolated Bilateral Renal Agenesis with and without Fetal Intervention.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Bilateral renal agenesis (BRA) is a lethal diagnosis, specifically meaning that natural survival beyond birth is not expected secondary to pulmonary hypoplasia.
    explanation: >-
      Directly links bilateral renal agenesis (via oligohydramnios) to lethal
      pulmonary hypoplasia, the Potter sequence consequence.
  downstream:
  - target: Perinatal respiratory failure
    description: Pulmonary hypoplasia leads to fatal respiratory insufficiency at birth.
- name: Perinatal respiratory failure
  description: >-
    Pulmonary hypoplasia from oligohydramnios in bilateral renal agenesis leaves
    insufficient functional lung tissue for gas exchange, causing respiratory
    failure that is the proximate cause of death in most affected neonates.
  biological_processes:
  - preferred_term: respiratory gaseous exchange
    modifier: ABNORMAL
    term:
      id: GO:0007585
      label: respiratory gaseous exchange by respiratory system
  evidence:
  - reference: PMID:32516788
    reference_title: Contemporary Outcomes of Patients with Isolated Bilateral Renal Agenesis with and without Fetal Intervention.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Fetal intervention via amnioinfusion may promote pulmonary survivorship after birth, but postnatal survival remains poor.
    explanation: >-
      The largest contemporary BRA series shows that even with amnioinfusion to
      restore amniotic fluid, postnatal survival remains poor because of the
      pulmonary consequences of oligohydramnios.
phenotypes:
- name: Renal agenesis
  category: Anatomical
  description: Complete absence of one or both kidneys with absent ureter(s).
  phenotype_term:
    preferred_term: Renal agenesis
    term:
      id: HP:0000104
      label: Renal agenesis
- name: Unilateral renal agenesis
  category: Anatomical
  subtype: Unilateral
  description: >-
    Congenital absence of a single kidney. Frequently asymptomatic, but the
    resulting solitary functioning kidney carries an increased lifetime risk of
    hypertension, proteinuria, and chronic kidney disease.
  phenotype_term:
    preferred_term: Unilateral renal agenesis
    term:
      id: HP:0000122
      label: Unilateral renal agenesis
  evidence:
  - reference: PMID:33954810
    reference_title: Outcomes of solitary functioning kidneys-renal agenesis is different than multicystic dysplastic kidney disease.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Independent risk factors for chronic kidney injury included CAKUT (OR 5.01, p=0.002) and URA (OR 2.71, p=0.04).
    explanation: >-
      This solitary-functioning-kidney cohort identifies unilateral renal
      agenesis as an independent risk factor for chronic kidney injury
      (hypertension, proteinuria, or reduced eGFR).
- name: Bilateral renal agenesis
  category: Anatomical
  subtype: Bilateral
  description: >-
    Congenital absence of both kidneys, almost invariably lethal at birth
    secondary to oligohydramnios-induced pulmonary hypoplasia.
  phenotype_term:
    preferred_term: Bilateral renal agenesis
    term:
      id: HP:0010958
      label: Bilateral renal agenesis
  evidence:
  - reference: PMID:28739660
    reference_title: A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Bilateral renal agenesis is almost invariably fatal at birth, and unilateral renal agenesis can lead to future health issues including end-stage renal disease.
    explanation: >-
      Documents that bilateral renal agenesis is almost invariably fatal at
      birth.
- name: Oligohydramnios
  category: Prenatal
  subtype: Bilateral
  description: Severely reduced amniotic fluid due to absent fetal urine output.
  phenotype_term:
    preferred_term: Oligohydramnios
    term:
      id: HP:0001562
      label: Oligohydramnios
  evidence:
  - reference: PMID:31098643
    reference_title: Update on the Prenatal Diagnosis and Outcomes of Fetal Bilateral Renal Agenesis.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Bilateral renal agenesis with oligohydramnios/anhydramnios is associated with a poor prognosis; perinatal death occurs secondary to pulmonary hypoplasia in the majority of cases.
    explanation: >-
      Confirms that bilateral renal agenesis produces oligohydramnios/anhydramnios
      and that the resulting pulmonary hypoplasia drives perinatal death.
- name: Pulmonary hypoplasia
  category: Anatomical
  subtype: Bilateral
  description: Underdeveloped lungs secondary to oligohydramnios.
  phenotype_term:
    preferred_term: Pulmonary hypoplasia
    term:
      id: HP:0002089
      label: Pulmonary hypoplasia
  evidence:
  - reference: PMID:32516788
    reference_title: Contemporary Outcomes of Patients with Isolated Bilateral Renal Agenesis with and without Fetal Intervention.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Bilateral renal agenesis (BRA) is a lethal diagnosis, specifically meaning that natural survival beyond birth is not expected secondary to pulmonary hypoplasia.
    explanation: >-
      Identifies pulmonary hypoplasia as the lethal consequence of bilateral
      renal agenesis.
- name: Potter facies
  category: Anatomical
  subtype: Bilateral
  description: Characteristic facial deformation from intrauterine compression.
  phenotype_term:
    preferred_term: Potter facies
    term:
      id: HP:0002009
      label: Potter facies
diagnosis:
- name: Prenatal renal ultrasonography
  description: >-
    Fetal ultrasonography is the primary modality for prenatal detection of renal
    agenesis. Findings include an empty renal fossa, non-visualization of the
    fetal bladder, and (in bilateral disease) severe oligohydramnios; color
    Doppler interrogation of the renal arteries helps exclude the diagnosis.
  diagnosis_term:
    preferred_term: prenatal renal ultrasonography
    term:
      id: MAXO:0009009
      label: prenatal renal ultrasonography
  results: >-
    Empty renal fossa, absent fetal bladder, and oligohydramnios; color Doppler
    can demonstrate absent renal arterial flow.
  evidence:
  - reference: PMID:31098643
    reference_title: Update on the Prenatal Diagnosis and Outcomes of Fetal Bilateral Renal Agenesis.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Fetal ultrasonography is the primary imaging modality for prenatal diagnosis of fetal urogenital tract abnormalities.
    explanation: >-
      Establishes fetal ultrasonography as the primary imaging modality for
      prenatal diagnosis of renal agenesis and related urogenital anomalies.
  - reference: PMID:31098643
    reference_title: Update on the Prenatal Diagnosis and Outcomes of Fetal Bilateral Renal Agenesis.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Color Doppler ultrasonography can be used as an adjunct to exclude bilateral renal agenesis by visualizing renal arteries.
    explanation: >-
      Color Doppler ultrasonography of the renal arteries is an adjunct to
      exclude bilateral renal agenesis prenatally.
genetic:
- name: GREB1L
  subtype: Syndromic
  association: Autosomal dominant renal agenesis / severe CAKUT
  presence: Positive
  gene_term:
    preferred_term: GREB1L
    term:
      id: hgnc:31042
      label: GREB1L
  notes: >-
    GREB1L is a retinoic-acid target essential for ureteric bud outgrowth;
    pathogenic variants cause autosomal dominant renal agenesis and severe CAKUT.
  evidence:
  - reference: PMID:29100091
    reference_title: Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      This demonstrates that GREB1L plays a major role in early metanephros and genital development in mice and humans.
    explanation: >-
      Identifies heterozygous GREB1L variants as a cause of bilateral kidney
      agenesis in humans, supported by a Greb1l knockout mouse with absent
      kidneys.
  - reference: PMID:28739660
    reference_title: A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      This study is the first to associate a component of the RAR pathway with renal agenesis in humans.
    explanation: >-
      Independently identifies GREB1L (a retinoic-acid-receptor pathway
      component) as a novel human renal agenesis gene.
- name: RET
  subtype: Syndromic
  association: Ureteric bud outgrowth signaling / CAKUT
  presence: Positive
  gene_term:
    preferred_term: RET
    term:
      id: hgnc:9967
      label: RET
  notes: >-
    RET encodes the receptor tyrosine kinase for GDNF that drives ureteric bud
    outgrowth; loss-of-function impairs kidney induction.
- name: PAX2
  subtype: Syndromic
  association: Renal coloboma syndrome / renal hypoplasia-agenesis
  presence: Positive
  gene_term:
    preferred_term: PAX2
    term:
      id: hgnc:8616
      label: PAX2
  notes: >-
    PAX2 is a transcription factor required for ureteric bud and nephron
    development; haploinsufficiency causes renal coloboma syndrome with renal
    hypoplasia/agenesis.
  evidence:
  - reference: PMID:22660956
    reference_title: Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Renal coloboma syndrome (RCS) is a highly variable syndrome characterized by renal and ocular abnormalities. It is associated in about 50 % of cases with mutations of PAX2, a gene encoding a transcription factor required during development.
    explanation: >-
      Confirms PAX2 as the transcription-factor gene mutated in renal coloboma
      syndrome, the spectrum that includes renal hypoplasia/agenesis.
- name: ITGA8
  subtype: Syndromic
  association: Bilateral renal agenesis / renal hypodysplasia
  presence: Positive
  gene_term:
    preferred_term: ITGA8
    term:
      id: hgnc:6144
      label: ITGA8
  notes: >-
    ITGA8 (integrin alpha-8) is required for GDNF expression and ureteric bud
    invasion of the metanephric mesenchyme; biallelic variants cause renal
    agenesis/hypodysplasia.
  evidence:
  - reference: PMID:24439109
    reference_title: Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      These results demonstrate that mutations of ITGA8 are a genetic cause of bilateral renal agenesis and that, at least in some cases, bilateral renal agenesis is an autosomal-recessive disease.
    explanation: >-
      Identifies recessive ITGA8 mutations as a cause of bilateral renal
      agenesis in humans.
  - reference: PMID:24439109
    reference_title: Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
    supports: SUPPORT
    evidence_source: MODEL_ORGANISM
    snippet: >-
      Itga8 homozygous knockout in mice is known to result in absence of kidney development.
    explanation: >-
      The mouse Itga8 knockout recapitulates absent kidney development,
      supporting ITGA8's role in renal agenesis.
- name: FGF20
  subtype: Syndromic
  association: Bilateral renal agenesis
  presence: Positive
  gene_term:
    preferred_term: FGF20
    term:
      id: hgnc:3677
      label: FGF20
  notes: >-
    FGF20 supports nephron progenitor survival; biallelic loss-of-function causes
    bilateral renal agenesis.
  evidence:
  - reference: PMID:22698282
    reference_title: FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Loss of FGF20 in humans, or of both ligands in mice, resulted in kidney agenesis.
    explanation: >-
      Demonstrates that loss of FGF20, which maintains nephron progenitor
      stemness, causes kidney agenesis in humans.
inheritance:
- name: Autosomal dominant inheritance
  description: >-
    Several monogenic forms of renal agenesis are transmitted as autosomal
    dominant traits with incomplete penetrance and variable expressivity,
    including GREB1L- and RET-related CAKUT, in which heterozygous variants are
    sufficient to cause disease.
  inheritance_term:
    preferred_term: Autosomal dominant inheritance
    term:
      id: HP:0000006
      label: Autosomal dominant inheritance
  evidence:
  - reference: PMID:29100091
    reference_title: Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      fetuses with BKA, led to the identification of 16 heterozygous variants in GREB1L
    explanation: >-
      Heterozygous GREB1L variants causing bilateral kidney agenesis establish
      an autosomal dominant (monoallelic) mode of inheritance for GREB1L-related
      renal agenesis.
- name: Autosomal recessive inheritance
  description: >-
    Other forms of renal agenesis are autosomal recessive, requiring biallelic
    loss-of-function variants, as established for ITGA8- and FGF20-related
    bilateral renal agenesis.
  inheritance_term:
    preferred_term: Autosomal recessive inheritance
    term:
      id: HP:0000007
      label: Autosomal recessive inheritance
  evidence:
  - reference: PMID:24439109
    reference_title: Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      These results demonstrate that mutations of ITGA8 are a genetic cause of bilateral renal agenesis and that, at least in some cases, bilateral renal agenesis is an autosomal-recessive disease.
    explanation: >-
      Recessive ITGA8 mutations causing bilateral renal agenesis establish an
      autosomal recessive mode of inheritance for this form of CAKUT.
prevalence:
- subtype: Unilateral
  population: Live and still births (China Birth Defects Monitoring Network, 2007-2020)
  measure_type: BIRTH_PREVALENCE
  prevalence_class: BAND_1_5_PER_10000
  rate_per_100000: 19.4
  percentage: 0.0194
  notes: >-
    Unilateral renal agenesis prevalence of 1.94 per 10,000 births in a national
    Chinese surveillance dataset of nearly 26 million births.
  evidence:
  - reference: PMID:40604648
    reference_title: A surveillance-based epidemiological study of renal agenesis in 25 million births in china, 2007-2020.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Among 25,909,000 births between 2007 and 2020, a total of 5,906 cases of RA were identified (5,020 URA and 780 BRA). The prevalence rates per 10,000 live and still births were 2.28 for RA, 1.94 for URA, and 0.30 for BRA, all showing an increasing trend over the study period.
    explanation: >-
      Large national surveillance dataset reporting unilateral renal agenesis
      prevalence of 1.94 per 10,000 births.
- subtype: Bilateral
  population: Live and still births (China Birth Defects Monitoring Network, 2007-2020)
  measure_type: BIRTH_PREVALENCE
  prevalence_class: BAND_1_9_PER_100000
  rate_per_100000: 3.0
  percentage: 0.0030
  notes: >-
    Bilateral renal agenesis prevalence of 0.30 per 10,000 births, with worse
    perinatal outcomes than unilateral disease.
  evidence:
  - reference: PMID:40604648
    reference_title: A surveillance-based epidemiological study of renal agenesis in 25 million births in china, 2007-2020.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Compared to URA, BRA was significantly associated with a higher proportion of preterm birth, low birth weight, early neonatal death, and TOPFA.
    explanation: >-
      Confirms the much lower prevalence and worse perinatal outcomes of
      bilateral versus unilateral renal agenesis.
treatments:
- name: Dialysis
  description: >-
    Renal replacement therapy to support survivors of bilateral renal agenesis or
    those with renal failure; rarely feasible in classic bilateral agenesis given
    perinatal lethality.
  treatment_term:
    preferred_term: renal dialysis
    term:
      id: MAXO:0000601
      label: renal dialysis
- name: Kidney transplantation
  description: Definitive renal replacement for survivors who reach candidacy.
  treatment_term:
    preferred_term: kidney transplantation
    term:
      id: MAXO:0010043
      label: whole kidney transplantation
- name: Nephroprotective surveillance of the solitary kidney
  description: >-
    Long-term monitoring of blood pressure, proteinuria, and renal function in
    unilateral renal agenesis to detect and manage chronic kidney disease.
  treatment_term:
    preferred_term: supportive care
    term:
      id: MAXO:0000950
      label: supportive care
- name: Genetic counseling
  description: >-
    Counseling for families with monogenic (autosomal dominant or recessive)
    renal agenesis to convey recurrence risk and inform reproductive
    decision-making, particularly for the GREB1L-, RET-, PAX2-, ITGA8-, and
    FGF20-related syndromic forms.
  treatment_term:
    preferred_term: Genetic Counseling
    term:
      id: NCIT:C15240
      label: Genetic Counseling
- name: Serial amnioinfusion
  description: >-
    Experimental fetal therapy for isolated bilateral renal agenesis in which
    serial infusions of fluid into the amniotic cavity restore amniotic fluid
    volume in an attempt to mitigate the pulmonary hypoplasia caused by
    oligohydramnios. Postnatal survival remains poor.
  treatment_term:
    preferred_term: therapeutic procedure of amniotic fluid
    term:
      id: MAXO:0001425
      label: therapeutic procedure of amniotic fluid
  evidence:
  - reference: PMID:32516788
    reference_title: Contemporary Outcomes of Patients with Isolated Bilateral Renal Agenesis with and without Fetal Intervention.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Fetal intervention via amnioinfusion may promote pulmonary survivorship after birth, but postnatal survival remains poor.
    explanation: >-
      The largest contemporary BRA series reports serial amnioinfusion as a
      fetal intervention that may promote pulmonary survivorship, though
      postnatal survival remains poor.
📚

References & Deep Research

Deep Research

1
Falcon ▸
Renal Agenesis (Congenital) — Disease Characteristics Research Report
Edison Scientific Literature 30 citations 2026-06-08T11:58:51.247004

Renal Agenesis (Congenital) — Disease Characteristics Research Report

Executive summary

Renal agenesis is a congenital anomaly defined by complete absence of one kidney (unilateral renal agenesis, URA/UKA) or both kidneys (bilateral renal agenesis, BRA). Pathogenesis is rooted in disrupted embryonic kidney development, especially failure of ureteric bud (UB) formation/branching or failure of UB–metanephric mesenchyme (MM) reciprocal induction, and can arise from monogenic, chromosomal/CNV, multifactorial, and environmental causes. BRA typically produces severe oligohydramnios/anhydramnios with pulmonary hypoplasia (“Potter sequence”) and is usually lethal without extraordinary interventions, whereas URA may be compatible with survival but confers increased lifetime risk of kidney injury and CKD, motivating structured surveillance. (gao2025asurveillancebasedepidemiological pages 1-2, brockwell2024pathophysiologyofcongenital pages 4-5, flogelova2024earlydiagnosisof pages 1-2, brockwell2024pathophysiologyofcongenital pages 2-4)

1. Disease Information

1.1 Definition and overview

  • Renal agenesis (RA): congenital absence of one or both kidneys. (gao2025asurveillancebasedepidemiological pages 1-2)
  • URA/UKA: absence of one kidney; often presents as congenital solitary functioning kidney (SFK). URA may be associated with long-term renal complications. (gao2025asurveillancebasedepidemiological pages 1-2, flogelova2024earlydiagnosisof pages 1-2)
  • BRA: absence of both kidneys; typically fatal and associated with oligohydramnios, pulmonary hypoplasia, and craniofacial anomalies consistent with Potter sequence. (gao2025asurveillancebasedepidemiological pages 1-2, brockwell2024pathophysiologyofcongenital pages 4-5)

Key conceptual framing (current understanding): RA is commonly considered within the broader spectrum of congenital anomalies of the kidney and urinary tract (CAKUT), where abnormal UB–MM signaling and downstream branching morphogenesis/nephron induction errors generate a continuum of phenotypes. (brockwell2024pathophysiologyofcongenital pages 1-2, mahmoud2024congenitalanomaliesof pages 1-2)

1.2 Key identifiers (available in retrieved sources)

  • ICD-10:
  • Q60.0 – unilateral renal agenesis. (gao2025asurveillancebasedepidemiological pages 1-2)
  • Q60.1; Q60.6 – used for bilateral renal agenesis / Potter-related coding in a national surveillance study. (gao2025asurveillancebasedepidemiological pages 1-2)

Not retrieved in this run (should be added from external resources such as OMIM/Orphanet/MONDO/MeSH): MONDO ID, Orphanet disease ID, OMIM phenotype IDs, MeSH descriptor ID.

1.3 Synonyms / alternative names

  • Renal agenesis (RA). (gao2025asurveillancebasedepidemiological pages 1-2)
  • Unilateral renal agenesis (URA); unilateral kidney agenesis (UKA). (gao2025asurveillancebasedepidemiological pages 1-2, flogelova2024earlydiagnosisof pages 1-2)
  • Bilateral renal agenesis (BRA); (often discussed in the context of) Potter sequence/syndrome. (gao2025asurveillancebasedepidemiological pages 1-2, brockwell2024pathophysiologyofcongenital pages 4-5)

1.4 Evidence provenance

This report synthesizes: (i) aggregated disease-level resources (large surveillance epidemiology; reviews), (ii) clinical cohort studies (pediatric SFK outcomes; multicenter solitary-kidney reflux nephropathy), and (iii) research protocols/clinical trials (serial amnioinfusion for renal anhydramnios). (gao2025asurveillancebasedepidemiological pages 1-2, flogelova2024earlydiagnosisof pages 1-2, esteghamati2022prevalenceofreflux pages 2-4, NCT03101891 chunk 1)

2. Etiology

2.1 Primary causal factors

Developmental mechanism (upstream cause): disruption of normal nephrogenesis, classically involving UB formation/branching and UB–MM reciprocal induction; failure of these steps can yield unilateral or bilateral agenesis. (brockwell2024pathophysiologyofcongenital pages 2-4, brockwell2024pathophysiologyofcongenital pages 1-2)

Genetic causes (representative examples from recent reviews): kidney agenesis has been linked to pathogenic variants in ITGA8, GREB1L, and FGF20. (mahmoud2024congenitalanomaliesof pages 5-6)

Environmental/maternal contributors (risk factors): CAKUT/RA has been associated with maternal diabetes and obesity, malnutrition, alcohol consumption, maternal smoking and irradiation, and medications affecting kidney development. (mahmoud2024congenitalanomaliesof pages 1-2, mahmoud2024congenitalanomaliesof pages 2-4, mahmoud2024congenitalanomaliesof pages 5-6)

2.2 Risk factors

Population-level associations from surveillance: In a national Chinese surveillance study (2007–2020), maternal age <35 years and female sex were associated with higher URA prevalence, whereas male sex was associated with higher BRA prevalence. (gao2025asurveillancebasedepidemiological pages 1-2)

Maternal/antenatal factors cited in a neonatal case series and reviews: maternal diabetes/obesity, extremes of parental age, alcohol use, smoking, assisted reproduction, infections, and other maternal comorbidities were reported as associated factors in the literature and/or observed in cases. (cormos2024prevalenceandclinical pages 2-4, cormos2024prevalenceandclinical pages 1-2, mahmoud2024congenitalanomaliesof pages 2-4)

2.3 Protective factors

Direct protective factors specific to RA are not well-established in the retrieved evidence. A CAKUT review notes that folic acid consumption may reduce severity of some malformations, but this is not renal-agenesis-specific and should be interpreted cautiously. (mahmoud2024congenitalanomaliesof pages 5-6)

2.4 Gene–environment interactions

The retrieved evidence supports multifactorial causation (genetic + environmental), but does not provide quantifiable interaction models for RA specifically. (mahmoud2024congenitalanomaliesof pages 1-2, cormos2024prevalenceandclinical pages 1-2)

3. Phenotypes

3.1 Core phenotype spectrum

Bilateral renal agenesis (BRA): typically presents prenatally with severe oligohydramnios/anhydramnios, leading to pulmonary hypoplasia and the Potter sequence phenotype. (gao2025asurveillancebasedepidemiological pages 1-2, brockwell2024pathophysiologyofcongenital pages 4-5)

Unilateral renal agenesis (URA): compatible with survival; often part of congenital solitary functioning kidney (SFK) and may coexist with other CAKUT lesions (e.g., VUR), predisposing to later kidney damage. (flogelova2024earlydiagnosisof pages 1-2, esteghamati2022prevalenceofreflux pages 4-5)

Associated anomalies (examples): In a neonatal case series, associated anomalies included cardiac and neurological abnormalities and “Potter syndrome” among complex cases. (cormos2024prevalenceandclinical pages 4-5)

3.2 Frequencies / clinical course (data)

Long-term pediatric outcomes in congenital SFK (birth cohort, 2000–2023): Among 160 children (84 UKA; 76 UMCDK), outcomes were: * Reduced GFR (<90 mL/min/1.73m²): 26.2% (42/160) (mostly mild). (flogelova2024earlydiagnosisof pages 1-2) * Hypertension: 13.8% (22/160). (flogelova2024earlydiagnosisof pages 1-2) * Proteinuria: 8.8% (14/160). (flogelova2024earlydiagnosisof pages 1-2) * Combined kidney damage: 35.6% (57/160). (flogelova2024earlydiagnosisof pages 1-2) Additionally, UMCDK cases were more likely to have normal final GFR than UKA (82% vs 67%, p=0.039). (flogelova2024earlydiagnosisof pages 1-2)

VUR / reflux nephropathy in children with solitary kidney (multicenter cross-sectional): In 199 children with solitary kidney: * VUR present: 23.1%. (esteghamati2022prevalenceofreflux pages 2-4) * Renal scarring on DMSA: 13.1%. (esteghamati2022prevalenceofreflux pages 2-4) * Reflux nephropathy (scarring associated with VUR): 7.5%. (esteghamati2022prevalenceofreflux pages 2-4) * Proteinuria: 6.5%; hematuria: 1.5%. (esteghamati2022prevalenceofreflux pages 2-4)

3.3 Suggested HPO terms (non-exhaustive)

  • Renal agenesis: HP:0000101 (suggested)
  • Unilateral renal agenesis / solitary kidney: HP:0000123 (suggested; “single kidney”)
  • Oligohydramnios/anhydramnios: HP:0001562 (suggested)
  • Pulmonary hypoplasia: HP:0002089 (suggested)
  • Hypertension: HP:0000822 (suggested)
  • Proteinuria: HP:0000093 (suggested)
  • Vesicoureteral reflux: HP:0000076 (suggested)

Quality-of-life impacts: QoL outcomes were not quantified in the retrieved excerpts; however, chronic monitoring burdens, CKD risk, and (for fetal therapy) substantial family and resource burdens are emphasized in expert commentary. (munshi2025nowwhatnavigating pages 3-4)

4. Genetic / Molecular Information

4.1 Causal genes / notable associations (human)

Recent reviews and a targeted BRA genetics review highlight multiple genes and pathways implicated in renal agenesis and related CAKUT. Key examples: * RET: encodes the GDNF receptor; loss-of-function variants associated with CAKUT including URA/BRA; in one stillbirth series cited in a BRA genetics review, heterozygous RET mutations were reported in 7/19 (37%) with BRA and 2/10 (20%) with URA. (kirschen2024thegeneticetiologies pages 8-9) * GDNF/RET axis: mechanistically crucial for UB branching and collecting system development; RET activation relates to GDNF ligand. (brockwell2024pathophysiologyofcongenital pages 5-7, mahmoud2024congenitalanomaliesof pages 5-6) * ITGA8, GREB1L, FGF20: explicitly linked to kidney agenesis in a 2024 CAKUT review. (mahmoud2024congenitalanomaliesof pages 5-6) * Additional genes discussed in the BRA genetics review include GFRA1 (biallelic loss-of-function leading to lethal BRA), NPNT, ROBO1, WNT4/WNT9B, WT1, and syndromic genes (e.g., EYA1/SIX1 in branchio-oto-renal spectrum; Fraser syndrome genes FRAS1/FREM2). (kirschen2024thegeneticetiologies pages 8-9, kirschen2024thegeneticetiologies pages 14-16, kirschen2024thegeneticetiologies pages 16-17)

4.2 Variant classes and penetrance (limitations)

The retrieved evidence indicates autosomal dominant patterns with incomplete penetrance and variable expression for some hereditary forms (clinical recommendation: parental renal ultrasound), but does not provide variant-level allele frequencies or ACMG-classified variant lists for RA. (cormos2024prevalenceandclinical pages 2-4)

4.3 Molecular pathways (mechanistic chain)

Upstream trigger → developmental failure → clinical phenotype: 1) Genetic/environmental insult perturbs UB induction/branching and/or UB–MM signaling. (mahmoud2024congenitalanomaliesof pages 1-2, brockwell2024pathophysiologyofcongenital pages 2-4) 2) Disrupted signaling in pathways including GDNF/RET, WNT, FGF, BMP alters branching morphogenesis and nephron progenitor maintenance/induction. (brockwell2024pathophysiologyofcongenital pages 5-7, mahmoud2024congenitalanomaliesof pages 5-6) 3) Organ-level outcome: absent kidney (URA/BRA). In BRA, absent fetal urine leads to oligohydramnios and impaired lung development → pulmonary hypoplasia and Potter sequence. (gao2025asurveillancebasedepidemiological pages 1-2, brockwell2024pathophysiologyofcongenital pages 1-2)

4.4 Suggested ontology terms

GO (biological process) — suggested: * metanephros development; kidney morphogenesis; ureteric bud development; branching morphogenesis

CL (cell types) — suggested: * metanephric mesenchyme cell / nephron progenitor cell (Six2+); ureteric bud epithelial cell

5. Environmental Information

Maternal metabolic and nutritional factors: maternal diabetes, obesity, malnutrition/low-protein diet, vitamin A deficiency were highlighted as CAKUT risk factors. (mahmoud2024congenitalanomaliesof pages 1-2, mahmoud2024congenitalanomaliesof pages 2-4)

Exposures: maternal alcohol use, smoking, and first-trimester irradiation were noted in CAKUT reviews and RA-focused neonatal literature. (mahmoud2024congenitalanomaliesof pages 5-6, cormos2024prevalenceandclinical pages 1-2)

Infectious agents: infections were referenced as possible risk factors in neonatal literature, but no specific pathogen–RA causal chain was established in retrieved evidence. (cormos2024prevalenceandclinical pages 1-2)

6. Mechanism / Pathophysiology (current understanding)

6.1 Core developmental biology

CAKUT pathophysiology is centered on reciprocal signaling between UB and MM, where UB invades MM and undergoes branching to form the collecting system while inducing nephron formation; disruptions at these stages can yield severe phenotypes, including agenesis. (brockwell2024pathophysiologyofcongenital pages 1-2, mahmoud2024congenitalanomaliesof pages 1-2)

6.2 Key signaling pathways

  • GDNF/RET: RET is activated through GDNF and is required for UB branching; pathogenic variation can impair branching and contribute to renal aplasia/agenesis phenotypes. (brockwell2024pathophysiologyofcongenital pages 5-7, mahmoud2024congenitalanomaliesof pages 5-6)
  • WNT signaling: WNT pathway genes (e.g., WNT4, WNT9B) are implicated in CAKUT and renal agenesis phenotypes. (brockwell2024pathophysiologyofcongenital pages 5-7, kirschen2024thegeneticetiologies pages 8-9)
  • FGF signaling: FGF family members, including FGF20, contribute to nephron progenitor maintenance; pathogenic variants have been linked to agenesis. (brockwell2024pathophysiologyofcongenital pages 5-7, mahmoud2024congenitalanomaliesof pages 5-6)

6.3 Model organism evidence (as cited in reviews)

The BRA genetics review notes animal-model support for gene causality (e.g., GREB1L in humans and mice; FRAS1 deficiency in mouse causing renal agenesis; LRP4 knockout mouse reported with bilateral kidney agenesis). (kirschen2024thegeneticetiologies pages 14-16, kirschen2024thegeneticetiologies pages 16-17)

7. Anatomical Structures Affected

7.1 Organ/tissue level

  • Primary: kidney (metanephros) absent unilaterally or bilaterally. (gao2025asurveillancebasedepidemiological pages 1-2)
  • Secondary (BRA): lungs (pulmonary hypoplasia due to anhydramnios). (gao2025asurveillancebasedepidemiological pages 1-2)
  • Associated systems: congenital anomalies can co-occur in circulatory, musculoskeletal, neurologic, and urinary systems. (gao2025asurveillancebasedepidemiological pages 1-2, cormos2024prevalenceandclinical pages 4-5)

7.2 Suggested UBERON terms

  • kidney: UBERON:0002113 (suggested)
  • lung: UBERON:0002048 (suggested)
  • ureteric bud: UBERON:0004182 (suggested)

8. Temporal Development

  • Onset: congenital; prenatal detection is feasible during routine fetal imaging.
  • Prenatal timing: fetal kidneys may be visualized by ultrasound at approximately 12 weeks; for RA, an “empty renal fossa” is described as a first sign, with Doppler assessment of renal arterial flow and bladder/oligohydramnios evaluation aiding diagnosis. (cormos2024prevalenceandclinical pages 2-4)
  • Progression (URA/SFK): risk of kidney damage emerges over childhood/adolescence, with measurable rates of reduced GFR, hypertension, and proteinuria in long-term cohorts. (flogelova2024earlydiagnosisof pages 1-2)

9. Inheritance and Population

9.1 Epidemiology (recent large-scale data)

A surveillance-based epidemiological study of 25,909,000 births in China (2007–2020) identified 5,906 RA cases (5,020 URA; 780 BRA). Reported prevalence per 10,000 births: * RA: 2.28/10,000 * URA: 1.94/10,000 * BRA: 0.30/10,000 with increasing trends over time. (gao2025asurveillancebasedepidemiological pages 1-2)

Review-level incidence estimates include unilateral RA ~1/1,000 births and bilateral RA 1–3/10,000 births (lethal). (brockwell2024pathophysiologyofcongenital pages 4-5)

A single-center neonatal series (2019–2023) reported 9 cases among 15,091 live births, corresponding to 1:1,677. (cormos2024prevalenceandclinical pages 1-2)

9.2 Sex and geography

In the China surveillance study, female sex was associated with higher URA prevalence, and male sex with higher BRA prevalence; higher prevalence was observed in urban and eastern/central regions. (gao2025asurveillancebasedepidemiological pages 1-2)

9.3 Inheritance patterns

Renal agenesis can be familial with incomplete penetrance/variable expressivity; a neonatal series/review notes autosomal dominant inheritance in hereditary cases and recommends parental renal ultrasound. (cormos2024prevalenceandclinical pages 2-4)

10. Diagnostics

10.1 Prenatal imaging

Ultrasound: primary modality; fetal kidneys visible ~12 weeks; features include empty renal fossa, evaluation of adrenal configuration (“lying down” adrenal sign), bladder visualization, amniotic fluid volume (oligohydramnios in BRA), and color Doppler for renal arterial flow. (cormos2024prevalenceandclinical pages 2-4)

Complementary fetal MRI: not extracted as renal-agenesis-specific performance metrics in this run; however, CAKUT imaging reviews emphasize MRI as complementary to ultrasound for upper urinary tract abnormalities (not detailed here due to limited retrieved evidence excerpts). (flogelova2024earlydiagnosisof pages 2-4)

10.2 Postnatal confirmation and functional assessment

  • Renal ultrasound for anatomy; DMSA scintigraphy can confirm a solitary functioning kidney and evaluate scarring. (flogelova2024earlydiagnosisof pages 2-4, esteghamati2022prevalenceofreflux pages 2-4)
  • GFR estimation and urine testing (protein/albumin markers) are used for longitudinal monitoring in pediatric SFK protocols. (flogelova2024earlydiagnosisof pages 2-4, flogelova2024earlydiagnosisof pages 1-2)

10.3 VUR testing strategy

VCUG is described as the “gold standard” for VUR detection, but ultrasound can miss many VUR cases; selective VCUG strategies are described in SFK follow-up protocols. (esteghamati2022prevalenceofreflux pages 4-5, flogelova2024earlydiagnosisof pages 2-4)

10.4 Genetic testing

A 2024 CAKUT review states that >50 genes have been implicated and monogenic variants may account for up to ~20% of cases; suggested approaches include next-generation sequencing (targeted panels, WES) and GWAS where appropriate. (mahmoud2024congenitalanomaliesof pages 1-2, mahmoud2024congenitalanomaliesof pages 2-4)

11. Outcomes / Prognosis

11.1 BRA outcomes

BRA is typically fatal due to pulmonary hypoplasia in the setting of anhydramnios/oligohydramnios, though fetal therapy trials attempt to mitigate lung hypoplasia. (gao2025asurveillancebasedepidemiological pages 1-2, NCT03101891 chunk 1)

11.2 URA/SFK outcomes

In a longitudinal pediatric congenital SFK cohort, 35.6% had combined markers of kidney damage; reduced GFR, hypertension, and proteinuria occurred at 26.2%, 13.8%, and 8.8%, respectively. (flogelova2024earlydiagnosisof pages 1-2)

VUR and reflux nephropathy are clinically relevant comorbidities in solitary kidney populations (VUR 23.1%; scarring 13.1%; reflux nephropathy 7.5%). (esteghamati2022prevalenceofreflux pages 2-4)

12. Treatment

12.1 URA/SFK management (current practice pattern)

There is no kidney-restoring pharmacotherapy for agenesis itself; management focuses on surveillance and complication prevention: * longitudinal monitoring of BP, GFR, and urine protein/albumin; (flogelova2024earlydiagnosisof pages 1-2) * evaluation for associated CAKUT and VUR, with selective VCUG and attention to UTI history; (flogelova2024earlydiagnosisof pages 2-4, esteghamati2022prevalenceofreflux pages 4-5) * management of proteinuria/hypertension and avoidance of nephrotoxic exposures are typical clinical strategies (not quantified in retrieved excerpts). (flogelova2024earlydiagnosisof pages 1-2)

MAXO term suggestions (non-exhaustive): kidney function monitoring; blood pressure monitoring; renal ultrasonography; radionuclide imaging (DMSA); voiding cystourethrography (VCUG); management of urinary tract infection.

12.2 Emerging fetal interventions for BRA / renal anhydramnios

Serial amnioinfusion is being studied as fetal therapy to restore amniotic fluid and promote lung development.

  • RAFT (Renal Anhydramnios Fetal Therapy), NCT03101891 (ClinicalTrials.gov; first posted 2018; active protocol): Phase 1; serial amnioinfusions (isotonic fluid) vs expectant management; primary outcome includes neonatal survival ≥14 days with dialysis access. Enrollment target and status details: estimated enrollment count 70 in registration metadata; recruitment for BRA arm was closed July 19, 2022 after DSMB review, while other fetal renal failure etiologies remain open. (NCT03101891 chunk 1, NCT03101891 chunk 2)

  • Amnioinfusion for Fetal Renal Failure, NCT06728228 (ClinicalTrials.gov; 2024): Recruiting; serial amnioinfusions (Lactated Ringers + oxacillin noted in protocol excerpt) with a parallel non-intervention comfort-care arm; primary outcomes include survival to dialysis and transplant and maternal safety (e.g., bleeding, infection, membrane rupture). Enrollment listed as 35 estimated in trial metadata, with narrative stating ~60 participants. (NCT06728228 chunk 1)

Expert opinion / implementation caution: A 2025 perspective article argues most centers should not currently offer serial amnioinfusions for BRA outside formal research settings, citing equity and evidence concerns, and recommends registry-based outcome tracking when offered. (munshi2025nowwhatnavigating pages 3-4)

13. Prevention

Evidence in this run supports mainly risk-factor optimization and prenatal screening rather than specific primary prevention. * Optimize maternal metabolic health (e.g., diabetes/obesity) and avoid known harmful exposures (smoking, irradiation, alcohol) based on CAKUT risk-factor literature. (mahmoud2024congenitalanomaliesof pages 1-2, mahmoud2024congenitalanomaliesof pages 5-6) * Prenatal ultrasound screening is a key secondary-prevention strategy enabling counseling and postnatal planning. (cormos2024prevalenceandclinical pages 2-4)

14. Other Species / Natural Disease

Not systematically covered in the retrieved evidence excerpts. Some gene–phenotype evidence is supported by animal models (mouse) as cited in reviews, but naturally occurring veterinary renal agenesis information was not retrieved. (kirschen2024thegeneticetiologies pages 14-16)

15. Model organisms

Evidence summarized in reviews includes mouse models supporting roles for developmental genes/pathways implicated in renal agenesis (e.g., FRAS1 deficiency; LRP4 knockout; GREB1L-related phenotypes). (kirschen2024thegeneticetiologies pages 14-16, kirschen2024thegeneticetiologies pages 16-17)

Key reference table (identifiers + epidemiology)

The following table consolidates core identifiers/synonyms and the most actionable epidemiologic statistics from the retrieved sources.

Item type Field Value Evidence/source (study, year, DOI/URL) Notes
identifier ICD-10 code Q60.0 Gao et al., A surveillance-based epidemiological study of renal agenesis in 25 million births in China, 2025, https://doi.org/10.1186/s12884-025-07807-6 (gao2025asurveillancebasedepidemiological pages 1-2) Used for unilateral renal agenesis (URA).
identifier ICD-10 codes Q60.1; Q60.6 Gao et al., 2025, https://doi.org/10.1186/s12884-025-07807-6 (gao2025asurveillancebasedepidemiological pages 1-2) Reported for bilateral renal agenesis/Potter-related coding.
synonym Renal agenesis (RA) Absence of one or both kidneys Gao et al., 2025, https://doi.org/10.1186/s12884-025-07807-6 (gao2025asurveillancebasedepidemiological pages 1-2) Umbrella term including unilateral and bilateral forms.
synonym Unilateral renal agenesis (URA) Absence of one kidney Gao et al., 2025, https://doi.org/10.1186/s12884-025-07807-6 (gao2025asurveillancebasedepidemiological pages 1-2) More common form; may be associated with long-term renal complications.
synonym Bilateral renal agenesis (BRA) Absence of both kidneys Gao et al., 2025, https://doi.org/10.1186/s12884-025-07807-6 (gao2025asurveillancebasedepidemiological pages 1-2) Typically fatal; associated with Potter sequence/syndrome in the source summary.
epidemiology Surveillance cohort size 25,909,000 births (China, 2007–2020) Gao et al., 2025, https://doi.org/10.1186/s12884-025-07807-6 (gao2025asurveillancebasedepidemiological pages 1-2) National birth-defects surveillance dataset.
epidemiology Total RA cases 5,906 Gao et al., 2025, https://doi.org/10.1186/s12884-025-07807-6 (gao2025asurveillancebasedepidemiological pages 1-2) Includes URA and BRA.
epidemiology URA cases 5,020 Gao et al., 2025, https://doi.org/10.1186/s12884-025-07807-6 (gao2025asurveillancebasedepidemiological pages 1-2) Subset of total RA cases.
epidemiology BRA cases 780 Gao et al., 2025, https://doi.org/10.1186/s12884-025-07807-6 (gao2025asurveillancebasedepidemiological pages 1-2) Subset of total RA cases as reported in the surveillance study.
epidemiology Prevalence of RA 2.28 per 10,000 live and still births Gao et al., 2025, https://doi.org/10.1186/s12884-025-07807-6 (gao2025asurveillancebasedepidemiological pages 1-2) Reported as overall renal agenesis prevalence.
epidemiology Prevalence of URA 1.94 per 10,000 live and still births Gao et al., 2025, https://doi.org/10.1186/s12884-025-07807-6 (gao2025asurveillancebasedepidemiological pages 1-2) More frequent than BRA.
epidemiology Prevalence of BRA 0.30 per 10,000 live and still births Gao et al., 2025, https://doi.org/10.1186/s12884-025-07807-6 (gao2025asurveillancebasedepidemiological pages 1-2) Much rarer and clinically more severe.
epidemiology Time trend Increasing trend over study period Gao et al., 2025, https://doi.org/10.1186/s12884-025-07807-6 (gao2025asurveillancebasedepidemiological pages 1-2) Applies to RA, URA, and BRA in the surveillance study.
epidemiology Single-center live-birth prevalence 1:1,677 Cormos et al., Prevalence and clinical profile of renal agenesis: case series and retrospective study from 2019 to 2023, 2024, https://doi.org/10.37897/newborn.2024.2.2 (cormos2024prevalenceandclinical pages 1-2) Based on 9 cases among 15,091 live births; hospital-based estimate, not population surveillance.
epidemiology Literature estimate: unilateral renal agenesis ~1/1,000 births Brockwell et al., Pathophysiology of Congenital Anomalies of the Kidney and Urinary Tract: A Comprehensive Review, 2024, https://doi.org/10.3390/cells13221866 (brockwell2024pathophysiologyofcongenital pages 4-5) Review-level estimate.
epidemiology Literature estimate: bilateral renal agenesis 1–3/10,000 births Brockwell et al., 2024, https://doi.org/10.3390/cells13221866 (brockwell2024pathophysiologyofcongenital pages 4-5) Review-level estimate; described as lethal in the review excerpt.
epidemiology Literature estimate: CAKUT overall 4–60/10,000 births Brockwell et al., 2024, https://doi.org/10.3390/cells13221866 (brockwell2024pathophysiologyofcongenital pages 1-2) Renal agenesis is one phenotype within the broader CAKUT spectrum.

Table: This table summarizes key renal agenesis identifiers, core definitions/synonyms, and the most useful epidemiology figures available from the gathered evidence. It combines population surveillance data with review-level prevalence estimates for quick reference in a knowledge-base entry.

Visual evidence (developmental and genetic context)

Brockwell et al. include a schematic of CAKUT-affected structures and a table mapping CAKUT phenotypes (including unilateral and bilateral renal agenesis) to mechanisms and genes/pathways (e.g., RET/GDNF, WNT, FGF20). (brockwell2024pathophysiologyofcongenital media 0b9cb4a9, brockwell2024pathophysiologyofcongenital media 5a639530)

Notes on evidence gaps relative to requested template

  • PMIDs: Not available in the retrieved excerpts for the key sources used here; DOIs/URLs and publication months/years are provided where available.
  • MONDO/OMIM/Orphanet/MeSH IDs: Not retrieved with the current tool evidence; should be added from dedicated ontology resources.
  • Variant-level details (HGVS, allele frequencies, ClinVar classifications): Not present in extracted excerpts; would require targeted retrieval of ClinVar/OMIM/GeneReviews or full-text deep extraction of genetic case series.

References

  1. (gao2025asurveillancebasedepidemiological pages 1-2): Yuyang Gao, Wenli Xu, Wenyan Li, Zhiyu Chen, Qi Li, Zhen Liu, and Li Dai. A surveillance-based epidemiological study of renal agenesis in 25 million births in china, 2007–2020. BMC Pregnancy and Childbirth, Jul 2025. URL: https://doi.org/10.1186/s12884-025-07807-6, doi:10.1186/s12884-025-07807-6. This article has 1 citations and is from a peer-reviewed journal.

  2. (brockwell2024pathophysiologyofcongenital pages 4-5): Maximilian Brockwell, Sean Hergenrother, Matthew Satariano, Raghav Shah, and Rupesh Raina. Pathophysiology of congenital anomalies of the kidney and urinary tract: a comprehensive review. Cells, 13:1866, Nov 2024. URL: https://doi.org/10.3390/cells13221866, doi:10.3390/cells13221866. This article has 15 citations.

  3. (flogelova2024earlydiagnosisof pages 1-2): Hana Flogelova, Katerina Bouchalova, Oldrich Smakal, Jan Halek, Katerina Langova, and Katerina Cizkova. Early diagnosis of solitary functioning kidney: comparing the prognosis of kidney agenesis and multicystic dysplastic kidney. Pediatric Nephrology (Berlin, Germany), 39:2645-2654, Apr 2024. URL: https://doi.org/10.1007/s00467-024-06360-2, doi:10.1007/s00467-024-06360-2. This article has 5 citations.

  4. (brockwell2024pathophysiologyofcongenital pages 2-4): Maximilian Brockwell, Sean Hergenrother, Matthew Satariano, Raghav Shah, and Rupesh Raina. Pathophysiology of congenital anomalies of the kidney and urinary tract: a comprehensive review. Cells, 13:1866, Nov 2024. URL: https://doi.org/10.3390/cells13221866, doi:10.3390/cells13221866. This article has 15 citations.

  5. (brockwell2024pathophysiologyofcongenital pages 1-2): Maximilian Brockwell, Sean Hergenrother, Matthew Satariano, Raghav Shah, and Rupesh Raina. Pathophysiology of congenital anomalies of the kidney and urinary tract: a comprehensive review. Cells, 13:1866, Nov 2024. URL: https://doi.org/10.3390/cells13221866, doi:10.3390/cells13221866. This article has 15 citations.

  6. (mahmoud2024congenitalanomaliesof pages 1-2): Anfal Hussain Mahmoud, Iman M. Talaat, Abdelaziz Tlili, and Rifat Hamoudi. Congenital anomalies of the kidney and urinary tract. Frontiers in Medicine, Jul 2024. URL: https://doi.org/10.3389/fmed.2024.1384676, doi:10.3389/fmed.2024.1384676. This article has 34 citations.

  7. (esteghamati2022prevalenceofreflux pages 2-4): Maryam Esteghamati, Hadi Sorkhi, Hamid Mohammadjafari, Ali Derakhshan, Simin Sadeghi-Bojd, Hossein Emad Momtaz, Masoumeh Mohkam, Baranak Safaeian, Nakysa Hooman, Afshin Safaeiasl, Mohsen Akhavan Sepahi, Khadijeh Ghasemi, Zahra Bazargani, and Elham Emami. Prevalence of reflux nephropathy in iranian children with solitary kidney: results of a multi-center study. BMC Nephrology, Feb 2022. URL: https://doi.org/10.1186/s12882-022-02703-z, doi:10.1186/s12882-022-02703-z. This article has 9 citations and is from a peer-reviewed journal.

  8. (NCT03101891 chunk 1): Renal Anhydramnios Fetal Therapy. Johns Hopkins University. 2018. ClinicalTrials.gov Identifier: NCT03101891

  9. (mahmoud2024congenitalanomaliesof pages 5-6): Anfal Hussain Mahmoud, Iman M. Talaat, Abdelaziz Tlili, and Rifat Hamoudi. Congenital anomalies of the kidney and urinary tract. Frontiers in Medicine, Jul 2024. URL: https://doi.org/10.3389/fmed.2024.1384676, doi:10.3389/fmed.2024.1384676. This article has 34 citations.

  10. (mahmoud2024congenitalanomaliesof pages 2-4): Anfal Hussain Mahmoud, Iman M. Talaat, Abdelaziz Tlili, and Rifat Hamoudi. Congenital anomalies of the kidney and urinary tract. Frontiers in Medicine, Jul 2024. URL: https://doi.org/10.3389/fmed.2024.1384676, doi:10.3389/fmed.2024.1384676. This article has 34 citations.

  11. (cormos2024prevalenceandclinical pages 2-4): Roxana Cristina Cormos, Andra Carabisi, Raluca Elena Iosifescu, Corina Laura Zgarcea, Octavian Ionut Nastase, and Maria Livia Ognean. Prevalence and clinical profile of renal agenesis: case series and retrospective study from 2019 to 2023. The Newborn Research & Reviews, 2:52-58, Jun 2024. URL: https://doi.org/10.37897/newborn.2024.2.2, doi:10.37897/newborn.2024.2.2. This article has 2 citations.

  12. (cormos2024prevalenceandclinical pages 1-2): Roxana Cristina Cormos, Andra Carabisi, Raluca Elena Iosifescu, Corina Laura Zgarcea, Octavian Ionut Nastase, and Maria Livia Ognean. Prevalence and clinical profile of renal agenesis: case series and retrospective study from 2019 to 2023. The Newborn Research & Reviews, 2:52-58, Jun 2024. URL: https://doi.org/10.37897/newborn.2024.2.2, doi:10.37897/newborn.2024.2.2. This article has 2 citations.

  13. (esteghamati2022prevalenceofreflux pages 4-5): Maryam Esteghamati, Hadi Sorkhi, Hamid Mohammadjafari, Ali Derakhshan, Simin Sadeghi-Bojd, Hossein Emad Momtaz, Masoumeh Mohkam, Baranak Safaeian, Nakysa Hooman, Afshin Safaeiasl, Mohsen Akhavan Sepahi, Khadijeh Ghasemi, Zahra Bazargani, and Elham Emami. Prevalence of reflux nephropathy in iranian children with solitary kidney: results of a multi-center study. BMC Nephrology, Feb 2022. URL: https://doi.org/10.1186/s12882-022-02703-z, doi:10.1186/s12882-022-02703-z. This article has 9 citations and is from a peer-reviewed journal.

  14. (cormos2024prevalenceandclinical pages 4-5): Roxana Cristina Cormos, Andra Carabisi, Raluca Elena Iosifescu, Corina Laura Zgarcea, Octavian Ionut Nastase, and Maria Livia Ognean. Prevalence and clinical profile of renal agenesis: case series and retrospective study from 2019 to 2023. The Newborn Research & Reviews, 2:52-58, Jun 2024. URL: https://doi.org/10.37897/newborn.2024.2.2, doi:10.37897/newborn.2024.2.2. This article has 2 citations.

  15. (munshi2025nowwhatnavigating pages 3-4): Raj Munshi, Kirsten Turner, Alfredo Berrettini, and Elliott Mark Weiss. Now what: navigating care of maternal/fetal dyads with bilateral renal agenesis after raft. a physician and parent point of view. Pediatric nephrology, 40:291-295, Jul 2025. URL: https://doi.org/10.1007/s00467-024-06460-z, doi:10.1007/s00467-024-06460-z. This article has 0 citations and is from a domain leading peer-reviewed journal.

  16. (kirschen2024thegeneticetiologies pages 8-9): Gregory W. Kirschen, Karin Blakemore, Huda B. Al‐Kouatly, Gila Fridkis, Ahmet Baschat, John Gearhart, and Angie C. Jelin. The genetic etiologies of bilateral renal agenesis. Prenatal Diagnosis, 44:205-221, Jan 2024. URL: https://doi.org/10.1002/pd.6516, doi:10.1002/pd.6516. This article has 8 citations and is from a peer-reviewed journal.

  17. (brockwell2024pathophysiologyofcongenital pages 5-7): Maximilian Brockwell, Sean Hergenrother, Matthew Satariano, Raghav Shah, and Rupesh Raina. Pathophysiology of congenital anomalies of the kidney and urinary tract: a comprehensive review. Cells, 13:1866, Nov 2024. URL: https://doi.org/10.3390/cells13221866, doi:10.3390/cells13221866. This article has 15 citations.

  18. (kirschen2024thegeneticetiologies pages 14-16): Gregory W. Kirschen, Karin Blakemore, Huda B. Al‐Kouatly, Gila Fridkis, Ahmet Baschat, John Gearhart, and Angie C. Jelin. The genetic etiologies of bilateral renal agenesis. Prenatal Diagnosis, 44:205-221, Jan 2024. URL: https://doi.org/10.1002/pd.6516, doi:10.1002/pd.6516. This article has 8 citations and is from a peer-reviewed journal.

  19. (kirschen2024thegeneticetiologies pages 16-17): Gregory W. Kirschen, Karin Blakemore, Huda B. Al‐Kouatly, Gila Fridkis, Ahmet Baschat, John Gearhart, and Angie C. Jelin. The genetic etiologies of bilateral renal agenesis. Prenatal Diagnosis, 44:205-221, Jan 2024. URL: https://doi.org/10.1002/pd.6516, doi:10.1002/pd.6516. This article has 8 citations and is from a peer-reviewed journal.

  20. (flogelova2024earlydiagnosisof pages 2-4): Hana Flogelova, Katerina Bouchalova, Oldrich Smakal, Jan Halek, Katerina Langova, and Katerina Cizkova. Early diagnosis of solitary functioning kidney: comparing the prognosis of kidney agenesis and multicystic dysplastic kidney. Pediatric Nephrology (Berlin, Germany), 39:2645-2654, Apr 2024. URL: https://doi.org/10.1007/s00467-024-06360-2, doi:10.1007/s00467-024-06360-2. This article has 5 citations.

  21. (NCT03101891 chunk 2): Renal Anhydramnios Fetal Therapy. Johns Hopkins University. 2018. ClinicalTrials.gov Identifier: NCT03101891

  22. (NCT06728228 chunk 1): Amnioinfusion for Fetal Renal Failure. Fetal Care Center, PLLC. 2024. ClinicalTrials.gov Identifier: NCT06728228

  23. (brockwell2024pathophysiologyofcongenital media 0b9cb4a9): Maximilian Brockwell, Sean Hergenrother, Matthew Satariano, Raghav Shah, and Rupesh Raina. Pathophysiology of congenital anomalies of the kidney and urinary tract: a comprehensive review. Cells, 13:1866, Nov 2024. URL: https://doi.org/10.3390/cells13221866, doi:10.3390/cells13221866. This article has 15 citations.

  24. (brockwell2024pathophysiologyofcongenital media 5a639530): Maximilian Brockwell, Sean Hergenrother, Matthew Satariano, Raghav Shah, and Rupesh Raina. Pathophysiology of congenital anomalies of the kidney and urinary tract: a comprehensive review. Cells, 13:1866, Nov 2024. URL: https://doi.org/10.3390/cells13221866, doi:10.3390/cells13221866. This article has 15 citations.

Artifacts