BACKGROUND: Since the CFTR gene was cloned, more than 1000 mutations have been identified. To date, a clear relationship has not been established between genotype and the progression of lung damage. A study was undertaken of the relationship between genotype, progression of lung disease, and survival in adult patients with cystic fibrosis (CF). METHODS: A prospective cohort of adult patients with CF and two CFTR mutations followed up in an adult cystic fibrosis unit was analysed. Patients were classified according to functional effects of classes of CFTR mutations and were grouped based on the CFTR molecular position on the epithelial cell surface (I-II/I-II, I-II/III-V). Spirometric values, progression of lung disease, probability of survival, and clinical characteristics were analysed between groups. RESULTS: Seventy four patients were included in the study. Patients with genotype I-II/I-II had significantly lower current spirometric values (p < 0.001), greater loss of pulmonary function (p < 0.04), a higher proportion of end-stage lung disease (p < 0.001), a higher risk of suffering from moderate to severe lung disease (odds ratio 7.12 (95% CI 1.3 to 40.5)) and a lower probability of survival than patients with genotype I-II/III, I-II/IV and I-II/V (p < 0.001). CONCLUSIONS: The presence of class I or II mutations on both chromosomes is associated with worse respiratory disease and a lower probability of survival.
BACKGROUND: Since the CFTR gene was cloned, more than 1000 mutations have been identified. To date, a clear relationship has not been established between genotype and the progression of lung damage. A study was undertaken of the relationship between genotype, progression of lung disease, and survival in adult patients with cystic fibrosis (CF). METHODS: A prospective cohort of adult patients with CF and two CFTR mutations followed up in an adult cystic fibrosis unit was analysed. Patients were classified according to functional effects of classes of CFTR mutations and were grouped based on the CFTR molecular position on the epithelial cell surface (I-II/I-II, I-II/III-V). Spirometric values, progression of lung disease, probability of survival, and clinical characteristics were analysed between groups. RESULTS: Seventy four patients were included in the study. Patients with genotype I-II/I-II had significantly lower current spirometric values (p < 0.001), greater loss of pulmonary function (p < 0.04), a higher proportion of end-stage lung disease (p < 0.001), a higher risk of suffering from moderate to severe lung disease (odds ratio 7.12 (95% CI 1.3 to 40.5)) and a lower probability of survival than patients with genotype I-II/III, I-II/IV and I-II/V (p < 0.001). CONCLUSIONS: The presence of class I or II mutations on both chromosomes is associated with worse respiratory disease and a lower probability of survival.
Authors: Javier de Gracia; Antonio Alvarez; Fernando Mata; Luisa Guarner; Montserrat Vendrell; Silvia Gadtner; Nicolás Cobos Journal: Med Clin (Barc) Date: 2002-11-09 Impact factor: 1.725
Authors: J R Riordan; J M Rommens; B Kerem; N Alon; R Rozmahel; Z Grzelczak; J Zielenski; S Lok; N Plavsic; J L Chou Journal: Science Date: 1989-09-08 Impact factor: 47.728
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Authors: Hara Levy; Carolynn L Cannon; Daniel Asher; Christopher García; Robert H Cleveland; Gerald B Pier; Michael R Knowles; Andrew A Colin Journal: J Med Case Rep Date: 2010-04-26
Authors: Eitan Kerem; Michael W Konstan; Kris De Boeck; Frank J Accurso; Isabelle Sermet-Gaudelus; Michael Wilschanski; J Stuart Elborn; Paola Melotti; Inez Bronsveld; Isabelle Fajac; Anne Malfroot; Daniel B Rosenbluth; Patricia A Walker; Susanna A McColley; Christiane Knoop; Serena Quattrucci; Ernst Rietschel; Pamela L Zeitlin; Jay Barth; Gary L Elfring; Ellen M Welch; Arthur Branstrom; Robert J Spiegel; Stuart W Peltz; Temitayo Ajayi; Steven M Rowe Journal: Lancet Respir Med Date: 2014-05-15 Impact factor: 30.700