| H01110 | |
| H番号 | H01110 |
| 名称 | 気胸 |
| 概要 | Pneumothorax is defined as air or gas accumulated in the pleural space and can be classified as spontaneous or traumatic. Traumatic pneumothorax includes iatrogenic cases caused during procedures such as pacemaker insertion. Spontaneous pneumothorax can be subclassified as primary or secondary. Primary spontaneous pneumothorax (PSP), which is defined as a pneumothorax without underlying lung disease, predominantly occurs in young, thin males. It is usually caused by ruptured pleural blebs or bullae. Approximately 10% of patients with PSP have a positive family history. Gene mutations in folliculin (FLCN) have been found. |
| カテゴリ | 呼吸器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | FLCN [HSA:201163] [KO:K09594] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | PSP might be associated with some congenital disorders such as Marfan syndrome [DS:H00653]. |
| リンク | ICD-11: CB21 ICD-10: J93.1 OMIM: 173600 |
| 文献 | PMID:22343477 著者 Grundy S, Bentley A, Tschopp JM タイトル Primary spontaneous pneumothorax: a diffuse disease of the pleura. 雑誌 Respiration 83:185-9 (2012) DOI:10.1159/000335993 PMID:18505456 (FLCN) 著者 Ren HZ, Zhu CC, Yang C, Chen SL, Xie J, Hou YY, Xu ZF, Wang DJ, Mu DK, Ma DH, Wang Y, Ye MH, Ye ZR, Chen BF, Wang CG, Lin J, Qiao D, Yi L タイトル Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. 雑誌 Clin Genet 74:178-83 (2008) DOI:10.1111/j.1399-0004.2008.01030.x |