Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis - PubMed
3 hours ago
- #cystine accumulation
- #clinical practice recommendations
- #nephropathic cystinosis
- Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by CTNS gene mutations affecting cystinosin.
- Infantile nephropathic cystinosis leads to renal Fanconi syndrome early in life, progressing to chronic kidney disease.
- Cysteamine therapy, dialysis, and transplantation have improved survival, with most patients now reaching adulthood.
- Extra-renal complications affecting eyes, musculoskeletal system, CNS, exocrine glands, and endocrine organs are increasingly important.
- Integrated multidisciplinary care and structured transition from pediatric to adult care are essential for management.
- Evidence-based clinical practice recommendations were developed using GRADE methodology to guide diagnosis and treatment.