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Cystinuria

Cystinuria Deep Research Fallback

⚠️ Fallback MONDO:0009067

Cystinuria Deep Research Fallback

Provider Attempts

  • 2026-05-05T15:30Z: just research-disorder falcon Cystinuria produced no artifact after a bounded silent wait and was interrupted.
  • 2026-05-05T16:00Z: just research-disorder openai Cystinuria failed with an OpenAI connection error and produced no artifact.
  • 2026-05-05T16:05Z: just research-disorder openscientist Cystinuria produced no artifact after a bounded silent wait and was interrupted.

No provider-generated deep-research narrative was available within the bounded runtime. Curation therefore proceeded from generated structured Orphanet evidence and fetched PubMed/ClinicalTrials.gov caches, without hand-editing any references_cache/*.md files.

Evidence Scope Used For Curation

  • ORPHA:214 structured record for definition, inheritance, exact MONDO/OMIM mapping, prevalence bands, and HPO phenotype frequencies.
  • ORPHA:93612 and ORPHA:93613 structured subtype records for Cystinuria type A and type B, including MONDO mappings, inheritance, and SLC3A1/SLC7A9 gene assertions.
  • PMID:22480232 and PMID:20517292 for the renal b(0,+) transporter mechanism, SLC3A1/SLC7A9 subunits, proximal-tubule reabsorption failure, cystine precipitation, inheritance patterns, and clinical framing.
  • PMID:18752446 and PMID:24045899 for human mutation cohorts, genetic heterogeneity, and synergistic/digenic diagnostic complexity.
  • PMID:30515543 for detailed clinical burden, pediatric stone contribution, CKD risk, recurrence/procedure burden, transporter structure, current therapies, mouse models, crystal growth/aggregation, and investigational cystine-analog approaches.
  • PMID:32066273 and PMID:36900678 for consensus/guideline treatment pathways: high fluid intake, dietary modification, urinary alkalinization, cystine-binding thiol drugs, and monitoring with cystine capacity.
  • PMID:28165480 for alpha-lipoic acid model evidence increasing urinary cystine solubility and suppressing stone growth in Slc3a1 knockout mice.
  • PMID:35822468 for pediatric overview, monogenic stone-disease burden, CKD framing, and alpha-lipoic acid as an emerging medical option.
  • PMID:38814457 for long-term ureteroscopic/endoscopic management outcomes.
  • ClinicalTrials.gov NCT02910531 and NCT03663855 for alpha-lipoic acid and tiopronin clinical trial context.

Curation Conclusions

Cystinuria is a monogenic renal tubular aminoaciduria caused primarily by pathogenic variants in SLC3A1 or SLC7A9, which encode the rBAT heavy subunit and b(0,+)AT light subunit of the cystine/dibasic amino acid transporter. Loss or reduction of transporter function impairs proximal tubular reabsorption of filtered cystine, ornithine, lysine, and arginine. Cystine is the least soluble of these amino acids, so high urinary cystine drives cystine crystalluria and recurrent cystine nephrolithiasis. Recurrent stones and procedures can cause obstruction, renal injury, chronic kidney disease, and hypertension.

Disease-directed management focuses on lowering urinary cystine supersaturation: high urine volume, dietary sodium/protein moderation, urinary alkalinization, and cystine-binding thiol drugs such as tiopronin or D-penicillamine when conservative measures fail. Surgical/endoscopic stone removal remains necessary for symptomatic or large stones. Alpha-lipoic acid and cystine crystal-growth inhibitors remain investigational in the cited evidence.