KEGG   DISEASE: H00892Help
Entry
H00892                      Disease                                

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 disease
BRITE hierarchy
Pathway
Aldosterone-regulated sodium reabsorption
Gene
SCNN1B [HSA:6338] [KO:K04825]
SCNN1A [HSA:6337] [KO:K04824]
SCNN1G [HSA:6340] [KO:K04827]
Other DBs
Reference
PMID:22211147 (description, gene)
  Authors
Rademacher J, Welte T
  Title
Bronchiectasis-diagnosis and treatment.
  Journal
Dtsch Arztebl Int 108:809-15 (2011)
Reference
PMID:18507830 (description, gene)
  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)
Reference
PMID:19462466 (description, gene)
  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)

» Japanese version

DBGET integrated database retrieval system