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Infantile Nephropathic Cystinosis: A Novel CTNS Mutation
Hakan Doneray1, Mohammed Aldahmesh2, Gulsah Yilmaz1
1Department of Pediatrics, Atatürk University School of Medicine, Erzurum, Turkey.
Abstract:
Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene. Infantile nephropathic cystinosis (INC) is one of the major complications of cystinosis. It is characterized by findings of Fanconi's syndrome within the first year of life. Here we report two patients with INC presenting with signs of Fanconi's syndrome and describe a novel CTNS mutation.
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