Long-term outcomes in nephropathic cystinosis: a review.

ABSTRACT: Nephropathic cystinosis is a lysosomal storage disease due to biallelic pathogenic variants in the CTNS gene encoding the cystine transport protein cystinosin. Dysfunction of cystinosin results in the intralysosomal accumulation of the disulfide cystine, which crystallizes in some tissues and damages many parenchymal organs. Fanconi syndrome is the first presenting sign with all the features of generalized proximal tubular dysfunction. The natural history of cystinosis includes multisystem complications, the most prominent being glomerular failure at 9-10 years. If a kidney transplant prolongs life, other complications occur, with variable frequencies. Some of the most common are hypothyroidism, a distal vacuolar myopathy, pancreatic exocrine and endocrine insufficiency, male hypogonadism,

SUBMITTER: Chang HE 

PROVIDER: S-EPMC12727779 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature