ISSN 1308-8734 | E-ISSN 1308-8742
Case Report
Infantile Nephropathic Cystinosis: A Novel CTNS Mutation
1 Department of Pediatrics, Atatürk University School of Medicine, Erzurum, Turkey  
2 Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia  
3 Department of Ophtalmology, Erzurum Region Trainig and Research Hospital, Erzurum, Turkey  
Eurasian J Med 2017; 49: 148-151
DOI: 10.5152/eurasianjmed.2017.17039
Key Words: Nephropathic cystinosis, genetic evaluation, children
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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