Non-classic cystic fibrosis associated with D1152HCFTR mutation
| Autor: | Laurent Mely, Dagorne M, Isabelle Fajac, Dominique Grenet, Thierry Bienvenu, Pierre-Régis Burgel, Varaigne F, M. Reynaud-Gaubert, Dominique Hubert, Gil Bellis, Annlyse Fanton, J. Languepin, André Labbé, F. Counil, Daniel Dusser, Nathalie Stremler, Domblides P, Michel Roussey, Siret D, P. Vic |
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| Jazyk: | angličtina |
| Rok vydání: | 2010 |
| Předmět: |
Adult
Male medicine.medical_specialty Consensus Pancreatic disease Adolescent Cystic Fibrosis GENETICS medicine.medical_treatment Cystic Fibrosis Transmembrane Conductance Regulator Cystic fibrosis Gastroenterology Membrane Potentials Cohort Studies Young Adult Chlorides Interquartile range Forced Expiratory Volume Internal medicine CYSTIC_FIBROSIS Humans Medicine Lung transplantation Genetic Predisposition to Disease Child Sweat Exocrine pancreatic insufficiency MUTATION Genetics (clinical) Aged Bronchiectasis biology business.industry Homozygote Middle Aged medicine.disease Congenital absence of the vas deferens Cystic fibrosis transmembrane conductance regulator Nasal Mucosa Endocrinology Amino Acid Substitution Child Preschool biology.protein Female business |
| Popis: | Burgel P-R, Fajac I, Hubert D, Grenet D, Stremler N, Roussey M, Siret D, Languepin J, Mely L, Fanton A, Labbe A, Domblides P, Vic P, Dagorne M, Reynaud-Gaubert M, Counil F, Varaigne F, Bienvenu T, Bellis G, Dusser D. Non-classic cystic fibrosis associated with D1152H CFTR mutation. Background: Limited knowledge exists on phenotypes associated with the D1152H cystic fibrosis transmembrane conductance regulator (CFTR) mutation. Methods: Subjects with a D1152H allele in trans with another CFTR mutation were identified using the French Cystic Fibrosis Registry. Phenotypic characteristics were compared with those of pancreatic insufficient (PI) and pancreatic sufficient (PS) cystic fibrosis (CF) subjects in the Registry (CF cohort). Results: Forty-two subjects with D1152H alleles were identified. Features leading to diagnosis included chronic sinopulmonary disease (n = 25), congenital absence of the vas deferens (n = 11), systematic neonatal screening (n = 4), and genetic counseling (n = 2). Median age at diagnosis was 33 [interquartile range (IQR, 24–41)] years in D1152H subjects. Median sweat chloride concentrations were 43.5 (39–63) mmol/l in D1152H subjects and were markedly lower than in PI and PS CF subjects (p < 0.05). Bronchiectasis was present in 67% of D1152H subjects, but Pseudomonas aeruginosa colonization and pancreatic insufficiency were present in |
| Databáze: | OpenAIRE |
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