The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis


TOPALOĞLU R., GÜLHAN 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.