title: Nephropathic cystinosis: late complications of a multisystemic disease.
abstract: Cystinosis is a rare autosomal recessive disorder due to impaired transport of cystine out of cellular lysosomes. Its estimated incidence is 1 in 100,000 live births. End-stage renal disease (ESRD) is the most prominent feature of cystinosis and, along with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, has accounted for the bulk of deaths from this disorder. Prior to renal transplantation and cystine-depleting therapy with cysteamine for children with nephropathic cystinosis, their lifespan was approximately 10 years. Now, cystinotic patients have survived through their fifth decade, but the unremitting accumulation of cystine has created significant non-renal morbidity and mortality. In this article we review the classic presentation of nephropathic cystinosis and the natural history, diagnosis, and treatment of the disorder's systemic involvement. We also emphasize the role of oral cysteamine therapy in preventing the late complications of cystinosis.
authors.affiliation: Section on Human Biochemical Genetics, Human Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-1851, USA.
authors.forename: Galina
authors.initials: G
authors.lastname: Nesterova
authors.forename: William
authors.initials: W
authors.lastname: Gahl
mesh_terms: D000284:Administration, Oral; D000293:Adolescent; D000328:Adult; D002648:Child; D003543:Cysteamine / Q000008:administration & dosage; D003554:Cystinosis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000401:mortality / Q000628:therapy; D018450:Disease Progression; D005198:Fanconi Syndrome / Q000209:etiology* / Q000401:mortality / Q000473:pathology / Q000628:therapy; D020022:Genetic Predisposition to Disease; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology* / Q000401:mortality / Q000473:pathology / Q000628:therapy; D016030:Kidney Transplantation; D008017:Life Expectancy; D008297:Male; D008875:Middle Aged; D012720:Severity of Illness Index; D016896:Treatment Outcome
chemical_list: D003543:Cysteamine