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 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 62 Issue: 5
  • Publication Date: 2020
  • Doi Number: 10.1111/ped.14173
  • Journal Name: PEDIATRICS INTERNATIONAL
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, Agricultural & Environmental Science Database, BIOSIS, CAB Abstracts, CINAHL, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.629-633
  • Keywords: CFTR mutation, CFTR-related disease, child, cystic fibrosis, sweat chloride, DIAGNOSIS
  • Istanbul University-Cerrahpasa Affiliated: Yes

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.