KEGG   DISEASE: α1-アンチトリプシン欠乏症
エントリ  
H01103                                                             
名称    
α1-アンチトリプシン欠乏症
概要    
Alpha-1-antitrypsin (A1AT) deficiency is a genetic disorder characterized by low plasma levels of A1AT. The condition is associated with emphysematous lung disease and also with liver disease. A1AT is the archetype of the serine protease inhibitor. Mutations in the A1AT gene lead to misfolding of the protein and accumulation within the endoplasmic reticulum of hepatocytes. The accumulation of mutant A1AT protein has a directly toxic effect on the liver, resulting in hepatitis and cirrhosis. And the decrease in circulating A1AT results in protease-antiprotease imbalance at the lung surface and emphysema ensues.
カテゴリ  
呼吸器系疾患; 先天性代謝異常症
階層分類  
ヒト疾患 [BR:jp08402]
 呼吸器系疾患
  肺疾患
   H01103  α1-アンチトリプシン欠乏症
 先天性代謝異常症
  その他の先天性代謝異常症
   H01103  α1-アンチトリプシン欠乏症
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   先天性代謝異常
    5C5A  アルファ1アンチトリプシン欠乏
     H01103  α1-アンチトリプシン欠乏症
特定疾患 (難病) [jp08407.html]
 H01103
関連パスウェイ
hsa04610  Complement and coagulation cascades
病因遺伝子 
SERPINA1 [HSA:5265] [KO:K03984]
環境要因  
Cigarette smoke
治療薬   
乾燥濃縮人α1-プロテイナーゼインヒビター [DR:D11965]
リンク   
ICD-11: 5C5A
ICD-10: J43.9
OMIM: 613490
文献    
  著者
Greene CM, Miller SD, Carroll T, McLean C, O'Mahony M, Lawless MW, O'Neill SJ, Taggart CC, McElvaney NG
  タイトル
Alpha-1 antitrypsin deficiency: a conformational disease associated with lung and liver manifestations.
  雑誌
J Inherit Metab Dis 31:21-34 (2008)
DOI:10.1007/s10545-007-0748-y
文献    
  著者
Mulgrew AT, Taggart CC, McElvaney NG
  タイトル
Alpha-1-antitrypsin deficiency: current concepts.
  雑誌
Lung 185:191-201 (2007)
DOI:10.1007/s00408-007-9009-y
文献    
  著者
Teckman JH
  タイトル
Lack of effect of oral 4-phenylbutyrate on serum alpha-1-antitrypsin in patients with alpha-1-antitrypsin deficiency: a preliminary study.
  雑誌
J Pediatr Gastroenterol Nutr 39:34-7 (2004)
DOI:10.1097/00005176-200407000-00007
文献    
  著者
Lockett AD, Van Demark M, Gu Y, Schweitzer KS, Sigua N, Kamocki K, Fijalkowska I, Garrison J, Fisher AJ, Serban K, Wise RA, Flotte TR, Mueller C, Presson RG Jr, Petrache HI, Tuder RM, Petrache I
  タイトル
Effect of cigarette smoke exposure and structural modifications on the alpha-1 Antitrypsin interaction with caspases.
  雑誌
Mol Med 18:445-54 (2012)
DOI:10.2119/molmed.2011.00207
LinkDB    

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