Clinical characteristics and genetic analysis of cystic fibrosis transmembrane conductance reseptor-related disease

KILINÇ A. A. , Alishbayli G., TANER H. E. , Cokugras F. C. , Cokugras H. C.

PEDIATRICS INTERNATIONAL, vol.62, no.5, pp.629-633, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 62 Issue: 5
  • Publication Date: 2020
  • Doi Number: 10.1111/ped.14173
  • Title of Journal : PEDIATRICS INTERNATIONAL
  • Page Numbers: pp.629-633
  • Keywords: CFTR mutation, CFTR-related disease, child, cystic fibrosis, sweat chloride, DIAGNOSIS

Abstract

Background Cystic fibrosis (CF) transmembrane conductance receptor (CFTR)-related disease is diagnosed in patients affected by CFTR dysfunction who do not fully meet the CF diagnostic criteria. Only 2% of all CF patients have CFTR-related disease. We define the demographic characteristics of such patients, described the performance of mutational analyses, and describe the clinical findings.