Abdurrahman Erdem Başaran1, Ayşen Başaran2, Dilara Fatma Kocacik Uygun3, Elanur Yılmaz4, Asef Moballegh4, Latife Öz5, Özgül Alper4, Ayşen Bingöl1. 1. Division of Pediatric Pulmonology, Akdeniz University School of Medicine, Antalya, Turkey. 2. Department of Pediatrics, Akdeniz University School of Medicine, Antalya, Turkey. 3. Department of Pediatrics, Division of Allergy Immunology, Faculty of Medicine, Akdeniz University, Antalya, Turkey. 4. Department of Medical Biology and Genetics, Akdeniz University, Faculty of Medicine, Antalya, Turkey. 5. Department of Pediatrics, Akdeniz University, Faculty of Medicine, Antalya, Turkey.
Abstract
OBJECTIVE: To compare class I/II cystic fibrosis transmembrane conductance regulator (CFTR) mutations to class III-V mutations with regards to cystic fibrosis disease severity markers in children. MATERIAL AND METHODS: This study was designed as a cross-sectional study in Antalya province, located on the south coast of Turkey. The study included 38 cystic fibrosis patients aged between 0.6 and 18 years. The CFTR genotype of the patients was categorized into 2 groups based on the presence or absence of class I or class II mutations in any of the alleles. Group I comprised 8 homozygous, 8 with unknown alleles, and 8 compound heterozygous patients, and group II comprised 11 homozygous and 3 compound heterozygous patients. The groups were analyzed in respect of cystic fibrosis disease severity markers, such as spirometry, ShwachmanKulczycki score, body mass index (BMI), sweat chloride concentration, chronic Pseudomonas aeruginosa infection, annual exacerbation frequency, and severe exacerbations requiring hospitalization during the previous year. RESULTS: In the comparison of group I and group II patients, a significant difference was observed in pancreas insufficiency (83.3% vs. 35.7%; P = .005), chronic P. aeruginosa infection (58.3% vs. 7.1%; P = .002), cough severity score (1.7 ± 1.1 vs. 0.9 ± 1.5; P = .029), number of severe exacerbations requiring hospitalization during the previous year (0.9 ± 1 vs. 0.3 ± 0.8; P = .03), and sweat chloride levels (76.7 ± 15.2 vs. 61 ± 22.3; P = .02). All these values were higher in group I patients. The mean BMI values (15.8 ± 2.2 vs. 17.6 ± 2.8; P = .03) were lower in group I patients. CONCLUSION: There seems to be a difference between class I/II CFTR mutations and class III-V mutations on the severity of the disease in cystic fibrosis patients.
OBJECTIVE: To compare class I/II cystic fibrosis transmembrane conductance regulator (CFTR) mutations to class III-V mutations with regards to cystic fibrosis disease severity markers in children. MATERIAL AND METHODS: This study was designed as a cross-sectional study in Antalya province, located on the south coast of Turkey. The study included 38 cystic fibrosis patients aged between 0.6 and 18 years. The CFTR genotype of the patients was categorized into 2 groups based on the presence or absence of class I or class II mutations in any of the alleles. Group I comprised 8 homozygous, 8 with unknown alleles, and 8 compound heterozygous patients, and group II comprised 11 homozygous and 3 compound heterozygous patients. The groups were analyzed in respect of cystic fibrosis disease severity markers, such as spirometry, ShwachmanKulczycki score, body mass index (BMI), sweat chloride concentration, chronic Pseudomonas aeruginosa infection, annual exacerbation frequency, and severe exacerbations requiring hospitalization during the previous year. RESULTS: In the comparison of group I and group II patients, a significant difference was observed in pancreas insufficiency (83.3% vs. 35.7%; P = .005), chronic P. aeruginosa infection (58.3% vs. 7.1%; P = .002), cough severity score (1.7 ± 1.1 vs. 0.9 ± 1.5; P = .029), number of severe exacerbations requiring hospitalization during the previous year (0.9 ± 1 vs. 0.3 ± 0.8; P = .03), and sweat chloride levels (76.7 ± 15.2 vs. 61 ± 22.3; P = .02). All these values were higher in group I patients. The mean BMI values (15.8 ± 2.2 vs. 17.6 ± 2.8; P = .03) were lower in group I patients. CONCLUSION: There seems to be a difference between class I/II CFTR mutations and class III-V mutations on the severity of the disease in cystic fibrosis patients.
Authors: Chee Y Ooi; Ruslan Dorfman; Marco Cipolli; Tanja Gonska; Carlo Castellani; Katherine Keenan; Steven D Freedman; Julian Zielenski; Yves Berthiaume; Mary Corey; Susanne Schibli; Elizabeth Tullis; Peter R Durie Journal: Gastroenterology Date: 2010-11-09 Impact factor: 22.682
Authors: T Pressler; C Bohmova; S Conway; S Dumcius; L Hjelte; N Høiby; H Kollberg; B Tümmler; V Vavrova Journal: J Cyst Fibros Date: 2011-06 Impact factor: 5.482
Authors: Scott M Blackman; Rebecca Deering-Brose; Rita McWilliams; Kathleen Naughton; Barbara Coleman; Teresa Lai; Marilyn Algire; Suzanne Beck; Julie Hoover-Fong; Ada Hamosh; M Daniele Fallin; Kristen West; Dan E Arking; Aravinda Chakravarti; David J Cutler; Garry R Cutting Journal: Gastroenterology Date: 2006-07-24 Impact factor: 22.682
Authors: V Terlizzi; A Tosco; R Tomaiuolo; A Sepe; N Amato; A Casale; C Mercogliano; F De Gregorio; F Improta; A Elce; G Castaldo; V Raia Journal: J Cyst Fibros Date: 2014-02-11 Impact factor: 5.482
Authors: Melissa A Wilk; Andrew T Braun; Philip M Farrell; Anita Laxova; Donna M Brown; James M Holt; Camille L Birch; Nadiya Sosonkina; Brandon M Wilk; Elizabeth A Worthey Journal: Cold Spring Harb Mol Case Stud Date: 2020-02-03