The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis


TOPALOĞLU R., Gulhan B., Inozu M., Canpolat N., Yilmaz A., Noyan A., ...More

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, vol.12, no.10, pp.1634-1641, 2017 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 12 Issue: 10
  • Publication Date: 2017
  • Doi Number: 10.2215/cjn.00180117
  • Title of Journal : CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
  • Page Numbers: pp.1634-1641

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.