| H01276 | |
| H番号 | H01276 |
| 名称 | 慢性特発性偽性腸閉塞症 |
| 概要 | Chronic idiopathic intestinal pseudo-obstruction (CIIP) is a rare, often fatal syndrome, caused by a heterogeneous group of enteric neuromuscular diseases that result in a severe abnormality of gastrointestinal motility. The typical clinical manifestation is characterized by recurrent episodes of abdominal pain, abdominal distension, and inability to defecate. CIIP is one of the most important causes of chronic intestinal failure both in pediatric and adult cases, since affected individuals are often unable to maintain normal body weight and/or normal oral nutrition. CIIP is generally sporadic, but familial forms have also been described. It has been reported that flamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction. |
| カテゴリ | 消化器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | FLNA [HSA:2316] [KO:K04437] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: DA90.2 ICD-10: K59.8 MeSH: D007418 OMIM: 300048 |
| 文献 | PMID:18494042 著者 Antonucci A, Fronzoni L, Cogliandro L, Cogliandro RF, Caputo C, De Giorgio R, Pallotti F, Barbara G, Corinaldesi R, Stanghellini V タイトル Chronic intestinal pseudo-obstruction. 雑誌 World J Gastroenterol 14:2953-61 (2008) DOI:10.3748/wjg.14.2953 PMID:17357080 著者 Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, Ballabio A, Ciccodicola A, Auricchio A タイトル Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. 雑誌 Am J Hum Genet 80:751-8 (2007) DOI:10.1086/513321 |