The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis.

ABSTRACT:

Background and objectives

Infantile nephropathic cystinosis is a severe disease that occurs due to mutations in the cystinosis gene, and it is characterized by progressive dysfunction of multiple organs; >100 cystinosis gene mutations have been identified in multiple populations. Our study aimed to identify the clinical characteristics and spectrum of cystinosis gene mutations in Turkish pediatric patients with cystinosis.

Design, setting, participants, & measurements

We identified the clinical characteristics and spectrum of cystinosis gene mutations in Turkish patients with cystinosis in a multicenter registry that was established for data collection. The data were extracted from this registry and analyzed.

Results

In total, 136 patients (75 men and 61 women) were e

SUBMITTER: Topaloglu R 

PROVIDER: S-EPMC5628704 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature