The Eurasian Journal of Medicine
Case Report

Infantile Nephropathic Cystinosis: A Novel CTNS Mutation

Eurasian J Med 2017; 49: 148-151
DOI: 10.5152/eurasianjmed.2017.17039
Read: 1974 Downloads: 1161 Published: 03 September 2019


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. 

EISSN 1308-8742