| H01016 | |
| H番号 | 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 |
| ネットワーク | - |
| 病因遺伝子 | (PBAM1) SLC10A2 [HSA:6555] [KO:K14342] (PBAM2) SLC51B [HSA:123264] [KO:K14361] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| 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 | PMID:19426836 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 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 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 |