KEGG   DISEASE: 気管支拡張症
エントリ  
H00892                                                             
名称    
気管支拡張症
概要    
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.
カテゴリ  
呼吸器系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 12 呼吸器系の疾患
  下気道の疾患
   CA24  気管支拡張症
    H00892  気管支拡張症
パスウェイ 
hsa04960  Aldosterone-regulated sodium reabsorption
病因遺伝子 
(BESC1) SCNN1B [HSA:6338] [KO:K04825]
(BESC2) SCNN1A [HSA:6337] [KO:K04824]
(BESC3) SCNN1G [HSA:6340] [KO:K04827]
治療薬   
dl-イソプレナリン塩酸塩 [DR:D01390]
デキストロメトルファン臭化水素酸塩水和物 [DR:D00848]
クロペラスチンフェンジゾ酸塩 [DR:D01569]
クロペラスチン塩酸塩 [DR:D01609]
アセチルシステイン [DR:D00221]
L-カルボシステイン [DR:D00175]
フドステイン [DR:D01845]
アンブロキソール塩酸塩 [DR:D01479]
エプラジノン塩酸塩 [DR:D01106]
チペピジンヒベンズ酸塩 [DR:D01495]
テルブタリン硫酸塩 [DR:D00688]
リンク   
ICD-11: CA24
ICD-10: J47
MeSH: D001987
OMIM: 211400 613021 613071
文献    
  著者
Rademacher J, Welte T
  タイトル
Bronchiectasis-diagnosis and treatment.
  雑誌
Dtsch Arztebl Int 108:809-15 (2011)
DOI:10.3238/arztebl.2011.0809
文献    
PMID:16207733 (BESC1)
  著者
Sheridan MB, Fong P, Groman JD, Conrad C, Flume P, Diaz R, Harris C, Knowles M, Cutting GR
  タイトル
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.
  雑誌
Hum Mol Genet 14:3493-8 (2005)
DOI:10.1093/hmg/ddi374
文献    
PMID:19462466 (BESC2)
  著者
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
  タイトル
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
  雑誌
Hum Mutat 30:1093-103 (2009)
DOI:10.1002/humu.21011
文献    
PMID:18507830 (BESC3)
  著者
Fajac I, Viel M, Sublemontier S, Hubert D, Bienvenu T
  タイトル
Could a defective epithelial sodium channel lead to bronchiectasis.
  雑誌
Respir Res 9:46 (2008)
DOI:10.1186/1465-9921-9-46
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