KEGG   DISEASE: 原発性胆汁酸吸収不良
エントリ  
H01016                                                             
名称    
原発性胆汁酸吸収不良
概要    
This disease occurs when there is impaired absorption of bile acids in the terminal ileum. In patients with terminal ileal resection or impaired terminal ileal function, bile acids are not reabsorbed and excess colonic bile acids cause diarrhea. Excess colonic bile acids can be seen in patients with a histological normal terminal ileum and this has been called primary bile acid malabsorption (PBAM).
カテゴリ  
消化器系疾患
階層分類  
ヒト疾患 [BR:jp08402]
 消化器系疾患
  消化管疾患
   H01016  原発性胆汁酸吸収不良
ICD-11 による疾患分類 [BR:jp08403]
 13 消化器系の疾患
  小腸の疾患
   DA96  腸性吸収不良または蛋白漏出性胃腸症
    H01016  原発性胆汁酸吸収不良
関連パスウェイ
hsa04976  Bile secretion
病因遺伝子 
(PBAM1) SLC10A2 [HSA:6555] [KO:K14342]
(PBAM2) SLC51B [HSA:123264] [KO:K14361]
コメント  
FGF19, produced in the ileum in response to bile acid absorption, regulates hepatic bile acid synthesis.
リンク   
ICD-11: DA96.02
MeSH: C567652
OMIM: 613291 619481
文献    
  著者
Walters JR, Tasleem AM, Omer OS, Brydon WG, Dew T, le Roux CW
  タイトル
A new mechanism for bile acid diarrhea: defective feedback inhibition of bile acid biosynthesis.
  雑誌
Clin Gastroenterol Hepatol 7:1189-94 (2009)
DOI:10.1016/j.cgh.2009.04.024
文献    
PMID:9109432 (SLC10A2)
  著者
Oelkers P, Kirby LC, Heubi JE, Dawson PA
  タイトル
Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2).
  雑誌
J Clin Invest 99:1880-7 (1997)
DOI:10.1172/JCI119355
文献    
PMID:28898457 (SLC51B)
  著者
Sultan M, Rao A, Elpeleg O, Vaz FM, Abu-Libdeh B, Karpen SJ, Dawson PA
  タイトル
Organic solute transporter-beta (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis.
  雑誌
Hepatology 68:590-598 (2018)
DOI:10.1002/hep.29516
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