| H00892 | |
| H number | H00892 |
| Name | Bronchiectasis with or without elevated sweat chloride |
| Description | Bronchiectasis is a condition in which the airways are permanently dilated due to recurrent inflammation or infection. In many cases, the cause is unknown but recently some of the patients have been shown to have mutations in the epithelial sodium channel ENaC. Furthermore, a three-fold significant increase in incidence of several rare ENaC polymorphisms was found in the patients. |
| Category | Respiratory system disease |
| Network | - |
| Gene | (BESC1) SCNN1B [HSA:6338] [KO:K04825] (BESC2) SCNN1A [HSA:6337] [KO:K04824] (BESC3) SCNN1G [HSA:6340] [KO:K04827] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: CA24 ICD-10: J47 MeSH: D001987 OMIM: 211400 613021 613071 |
| Reference | PMID:22211147 AUTHORS Rademacher J, Welte T TITLE Bronchiectasis-diagnosis and treatment. JOURNAL Dtsch Arztebl Int 108:809-15 (2011) DOI:10.3238/arztebl.2011.0809 PMID:16207733 (BESC1) AUTHORS Sheridan MB, Fong P, Groman JD, Conrad C, Flume P, Diaz R, Harris C, Knowles M, Cutting GR TITLE Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. JOURNAL Hum Mol Genet 14:3493-8 (2005) DOI:10.1093/hmg/ddi374 PMID:19462466 (BESC2) AUTHORS Azad AK, Rauh R, Vermeulen F, Jaspers M, Korbmacher J, Boissier B, Bassinet L, Fichou Y, des Georges M, Stanke F, De Boeck K, Dupont L, Balascakova M, Hjelte L, Lebecque P, Radojkovic D, Castellani C, Schwartz M, Stuhrmann M, Schwarz M, Skalicka V, de Monestrol I, Girodon E, Ferec C, Claustres M, Tummler B, Cassiman JJ, Korbmacher C, Cuppens H TITLE Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. JOURNAL Hum Mutat 30:1093-103 (2009) DOI:10.1002/humu.21011 PMID:18507830 (BESC3) AUTHORS Fajac I, Viel M, Sublemontier S, Hubert D, Bienvenu T TITLE Could a defective epithelial sodium channel lead to bronchiectasis. JOURNAL Respir Res 9:46 (2008) DOI:10.1186/1465-9921-9-46 |