Cystinosis myopathy: Searching for optimal clinical outcome measures

Abstract

Nephropathic cystinosis is a rare multisystemic, autosomal recessive, lysosomal storage disorder affecting 0.5-1 per 100 000 live births. Mutations in cystinosin, a lysosomal transporter, result in intralysosomal accumulation and crystallization of cystine in several organs including skeletal muscles. Systemic complications of cystinosis include Fanconi syndrome, hypothyroidism, diabetes mellitus, pancreatic exocrine deficiency, crystalline keratopathy, retinal blindness, hypogonadism, benign intracranial hypertension, central nervous system involvement, and vascular calcifications. Cysteamine and renal replacement therapies, including renal transplantation, prolong the life