KEGG   DISEASE: Bronchiectasis with or without elevated sweat chloride
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
Human diseases [BR:br08402]
 Respiratory diseases
  Tracheobronchial diseases
   H00892  Bronchiectasis with or without elevated sweat chloride
Human diseases in ICD-11 classification [BR:br08403]
 12 Diseases of the respiratory system
  Certain lower respiratory tract diseases
   CA24  Bronchiectasis
    H00892  Bronchiectasis with or without elevated sweat chloride
Pathway
hsa04960  Aldosterone-regulated sodium reabsorption
Gene
SCNN1B [HSA:6338] [KO:K04825]
SCNN1A [HSA:6337] [KO:K04824]
SCNN1G [HSA:6340] [KO:K04827]
Other DBs
ICD-11: CA24
ICD-10: J47
MeSH: D001987
OMIM: 211400 613021 613071
Reference
  Authors
Rademacher J, Welte T
  Title
Bronchiectasis-diagnosis and treatment.
  Journal
Dtsch Arztebl Int 108:809-15 (2011)
DOI:10.3238/arztebl.2011.0809
Reference
  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
Reference
  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
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