tailieunhanh - Báo cáo y học: "‘CFTR-opathies’: disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học 'Respiratory Research cung cấp cho các bạn kiến thức về ngành y đề tài:CFTR-opathies’: disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. | Available online http content 2 6 328 Review CFTR-opathies disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations Peadar G Noone and Michael R Knowles Pulmonary Research and Treatment Center Department of Medicine University of North Carolina at Chapel Hill North Carolina USA Correspondence Peadar G Noone MD Pulmonary Division CB 7248 The University of North Carolina at Chapel Hill Chapel Hill NC 27599-7248 USA. Tel 1 919 966 1077 fax 1 919 966 7524 e-mail pnoone@ Received 18 June 2001 Revisions requested 25 June 2001 Revisions received 29 June 2001 Accepted 17 July 2001 Published 9 August 2001 Respir Res 2001 2 328-332 2001 BioMed Central Ltd Print ISSN 1465-9921 Online ISSN 1465-993X Abstract Cystic fibrosis is a genetic disease that is associated with abnormal sweat electrolytes sino-pulmonary disease exocrine pancreatic insufficiency and male infertility. Insights into genotype phenotype relations have recently been gained in this disorder. The strongest relationship exists between severe mutations in the gene that encodes the cystic fibrosis transmembrane regulator CFTR and pancreatic insufficiency. The relationship between mild mutations associated with residual CFTR function and expression of disease is less precise. Atypical mild mutations in the CFTR gene have been linked to late-onset pulmonary disease congenital bilateral absence of the vas deferens and idiopathic pancreatitis. Less commonly sinusitis allergic bronchopulmonary aspergillosis and possibly even asthma may also be associated with mutations in the CFTR gene but those syndromes predominantly reflect non-CFTR gene modifiers and environmental influences. Keywords asthma cystic fibrosis CF cystic fibrosis transmembrane regulator CFTR mutations pancreatitis phenotype Introduction Cystic fibrosis CF is a recessive genetic disease that is caused by mutations on both CFTR alleles resulting in abnormal sweat electrolytes .