nephropathic cystinosis in children: a ten year experience from a pediatric nephrology center in mashhad, north east of iran

Background: nephropathic cystinosis is a rare autosomal recessive lysosomal storage disease. its clinical manifestations include: failure to thrive, fanconi syndrome, ocular findings, growth retardation and end stage renal disease.methods: this was a retrospective chart review of patients with a diagnosis of nephropathic cystinosis over a ten year period in dr. sheikh children’s hospital in mashhad, north east of iran.results: 20 patients were included in the study. the most common symptoms leading to the diagnosis were failure to thrive, polyuria, and polydipsia. kidney involvement was reported in 77% of patients. end stage renal disease was reported in 10% and 2 patients had died because of that. extrarenal manifestations included: hypothyroidism (25%), anemia (55.5%) and hypophosphatemic rickets (80%).conclusion: the most important complication of nephropathic cystinosis is end stage kidney disease. early diagnosis and timely treatment with cysteamin can prevent or delay the complications.