Cystinosis is a rare, autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. This results in defective cystinosin, a lysosomal cystine transporter, leading to the accumulation of cystine in lysosomes across tissues. The disease predominantly manifests as nephropathic infantile cystinosis, with early symptoms stemming from renal Fanconi syndrome. If untreated, cystinosis progresses to multiorgan involvement, including kidney failure, endocrine and neurological deficits and muscular disease. Early diagnosis and cystine-depleting therapy with cysteamine, have significantly improved outcomes, transforming the disease from fatal to chronic with a manageable quality of life.

Cystinosis is a rare, autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. This results in defective cystinosin, a lysosomal cystine transporter, leading to the accumulation of cystine in lysosomes across tissues. The disease predominantly manifests as nephropathic infantile cystinosis, with early symptoms stemming from renal Fanconi syndrome. If untreated, cystinosis progresses to multiorgan involvement, including kidney failure, endocrine and neurological deficits and muscular disease. Early diagnosis and cystine-depleting therapy with cysteamine, have significantly improved outcomes, transforming the disease from fatal to chronic with a manageable quality of life.