Infantile Nephropathic Cystinosis: A Novel CTNS Mutation.

Hakan Doneray,Emine Cinici,Mohammed Aldahmesh,Zerrin Orbak,Gulsah Yilmaz

doi:10.5152/eurasianjmed.2017.17039

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.

Highlights

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
Cystinosis is a rare autosomal recessive lysosomal storage disease that results from a defect in the cystine transporter protein cystinosin, which is encoded by the CTNS gene
There are three different clinical forms of cystinosis according to disease severity, which depend on the age at presentation and the degree of accumulation of cystine: the infantile nephropathic form, which is the most common and most severe form of cystinosis; the late-onset adolescent form; and the benign adult form [2]

Summary

Introduction

Cystinosis is a rare autosomal recessive lysosomal storage disease that results from a defect in the cystine transporter protein cystinosin, which is encoded by the CTNS gene. 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. We report two patients with INC presenting with signs of Fanconi’s syndrome and describe a novel CTNS mutation.

Results

Conclusion