KEGG   DISEASE: H00892Help
H00892                      Disease                                

Bronchiectasis with or without elevated sweat chloride
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.
Respiratory disease
Human diseases [BR:br08402]
 Respiratory diseases
  Tracheobronchial diseases
   H00892  Bronchiectasis with or without elevated sweat chloride
BRITE hierarchy
Aldosterone-regulated sodium reabsorption
SCNN1B [HSA:6338] [KO:K04825]
SCNN1A [HSA:6337] [KO:K04824]
SCNN1G [HSA:6340] [KO:K04827]
Other DBs
PMID:22211147 (description, gene)
Rademacher J, Welte T
Bronchiectasis-diagnosis and treatment.
Dtsch Arztebl Int 108:809-15 (2011)
PMID:18507830 (description, gene)
Fajac I, Viel M, Sublemontier S, Hubert D, Bienvenu T
Could a defective epithelial sodium channel lead to bronchiectasis.
Respir Res 9:46 (2008)
PMID:19462466 (description, gene)
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
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
Hum Mutat 30:1093-103 (2009)

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