KEGG   DISEASE: 肺動脈性肺高血圧症
エントリ  
H01621                                                             

名称    
肺動脈性肺高血圧症
概要    
Pulmonary arterial hypertension (PAH) is a progressive disorder in which endothelial dysfunction and vascular remodeling obstruct small pulmonary arteries, resulting in increased pulmonary vascular resistance and pulmonary pressures. This leads to reduced cardiac output, right heart failure, and ultimately death. PAH is divided into disease subgroups that include heritable (HPAH, formerly familial PAH), idiopathic (IPAH), and PAH associated with a variety of other systemic diseases or drug/toxin exposures. It has been discovered that altered BMPR2 signaling is the major heritable risk factor for development of PAH, via rare variants (mutations) in the BMPR2 gene (coding for a type II receptor member of the transforming growth factor [TGF]-beta family). Pathogenic mutations in the type I receptor ACVRL1 and, at a significantly lower frequency, the type III receptor endoglin in multiple kindreds cause PAH associated with hereditary hemorrhagic telangiectasia (HHT). Together, these observations support a prominent role for TGF-beta family members in the development of PAH.
カテゴリ  
循環器疾患
階層分類  
ヒト疾患 [BR:jp08402]
 循環器系疾患
  高血圧性疾患
   H01621  肺動脈性肺高血圧症
ICD-11 による疾患分類 [BR:jp08403]
 11 Diseases of the circulatory system
  Pulmonary heart disease or diseases of pulmonary circulation
   BB01  Pulmonary hypertension
    H01621  肺動脈性肺高血圧症
特定疾患 (難病) [jp08407.html]
 H01621
関連パスウェイ
hsa04350  TGF-beta signaling pathway
病因遺伝子 
BMPR2 [HSA:659] [KO:K04671]
ACVRL1 [HSA:94] [KO:K13594]
ENG [HSA:2022] [KO:K06526]
CAV1 [HSA:857] [KO:K06278]
KCNK3 [HSA:3777] [KO:K04914]
SMAD9 [HSA:4093] [KO:K16791]
EIF2AK4 [HSA:440275] [KO:K16196]
治療薬   
エポプロステノールナトリウム [DR:D01337]
イロプロスト [DR:D02721]
ベラプロストナトリウム [DR:D01551]
トレプロスチニル [DR:D06213]
セレキシパグ [DR:D09994]
ボセンタン水和物 [DR:D01227]
アンブリセンタン [DR:D07077]
マシテンタン [DR:D10135]
リオシグアト [DR:D09572]
シルデナフィルクエン酸塩 [DR:D02229]
タダラフィル [DR:D02008]
一酸化窒素 [DR:D00074]
リンク   
ICD-11: BB01.0
ICD-10: I27
MeSH: D065627
文献    
PMID:25082294 (drug)
  著者
Matsubara H, Ogawa A
  タイトル
Treatment of idiopathic/hereditary pulmonary arterial hypertension.
  雑誌
J Cardiol 64:243-9 (2014)
DOI:10.1016/j.jjcc.2014.06.009
文献    
  著者
Lai YC, Potoka KC, Champion HC, Mora AL, Gladwin MT
  タイトル
Pulmonary arterial hypertension: the clinical syndrome.
  雑誌
Circ Res 115:115-30 (2014)
DOI:10.1161/CIRCRESAHA.115.301146
文献    
  著者
Soubrier F, Chung WK, Machado R, Grunig E, Aldred M, Geraci M, Loyd JE, Elliott CG, Trembath RC, Newman JH, Humbert M
  タイトル
Genetics and genomics of pulmonary arterial hypertension.
  雑誌
J Am Coll Cardiol 62:D13-21 (2013)
DOI:10.1016/j.jacc.2013.10.035
文献    
  著者
Austin ED, Loyd JE
  タイトル
The genetics of pulmonary arterial hypertension.
  雑誌
Circ Res 115:189-202 (2014)
DOI:10.1161/CIRCRESAHA.115.303404
文献    
PMID:24912571 (drug)
  著者
Kylhammar D, Persson L, Hesselstrand R, Radegran G
  タイトル
Prognosis and response to first-line single and combination therapy in pulmonary arterial hypertension.
  雑誌
Scand Cardiovasc J 48:223-33 (2014)
DOI:10.3109/14017431.2014.931595
LinkDB    

» English version

DBGET integrated database retrieval system