Nasrin Moazzen; Fatemeh Shahrahmani; Anoush Azarfar; Yalda Ravanshad; Alireza Ataei Nakhaee; Ali Khakshour; mojtaba lotfi; Sepideh Bagheri
Abstract
Background: Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disease. Its clinical manifestations include: failure to thrive, fanconi syndrome, ocular findings, ...
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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.
