| H00896 | |
| H番号 | H00896 |
| 名称 | リンパ脈管筋腫症 |
| 概要 | Lymphangioleiomyomatosis (LAM) is a rare lung disease, primarily affecting women. Abnormal proliferation of smooth muscle-like cells (LAM cells) within the lung is responsible for cystic destruction of the lung parenchyma and leads to chronic respiratory failure. Another characteristic feature of the disease is the development of fluid-filled lymphatic cystic structures (lymphangioleiomyomas) in the axial lymphatics and of angiomyolipomas in the kidneys. Its presentation is sporadic or associated with tuberous sclerosis complex, a dominant autosomal neurocutaneous syndrome. Both disorders have their origin in mutations of the tuberous sclerosis genes TSC1 and TSC2, which are involved in the regulation of cell signs critical for energy control and cell nutrition processes. |
| カテゴリ | 呼吸器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | TSC1 [HSA:7248] [KO:K07206] TSC2 [HSA:7249] [KO:K07207] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | シロリムス [DR:D00753] |
| コメント | - |
| リンク | ICD-11: CB07 ICD-10: I89.8 OMIM: 606690 |
| 文献 | PMID:21255897 著者 Ansotegui Barrera E, Mancheno Franch N, Vera-Sempere F, Padilla Alarcon J タイトル Lymphangioleiomyomatosis. 雑誌 Arch Bronconeumol 47:85-93 (2011) DOI:10.1016/j.arbres.2010.08.008 PMID:11829138 (TSC1 TSC2) 著者 Sato T, Seyama K, Fujii H, Maruyama H, Setoguchi Y, Iwakami S, Fukuchi Y, Hino O タイトル Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis. 雑誌 J Hum Genet 47:20-8 (2002) DOI:10.1007/s10038-002-8651-8 |