| H01299 | |
| H番号 | H01299 |
| 名称 | 特発性肺線維症 |
| 概要 | Idiopathic pulmonary fibrosis is a scarring lung disease that presents in older adults with shortness of breath and cough. Mutations in surfactant protein C (SFTPC), surfactant protein A (SFTPA), telomerase reverse transcriptase (TERT), and telomerase RNA component (TERC) have been identified in familial cases of pulmonary fibrosis. Recently, promoter variant of MUC5B was confirmed as an idiopathic pulmonary fibrosis risk variant. |
| カテゴリ | 呼吸器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (PFBMFT1) TERT [HSA:7015] [KO:K11126] (PFBMFT2) TERC [HSA:7012] [KO:K22183] (ILD1) SFTPA1 [HSA:653509] [KO:K10067] (ILD2) SFTPA2 [HSA:729238] [KO:K10067] (ILD2) MUC5B [HSA:727897] [KO:K13908] SFTPC [HSA:6440] [KO:K26068] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | ニンテダニブエタンスルホン酸塩 [DR:D10396] ピルフェニドン [DR:D01583] |
| コメント | - |
| リンク | ICD-11: CB03.4 ICD-10: J84.1 OMIM: 614742 614743 619611 178500 |
| 文献 | PMID:17168848 著者 Heinrich S, Hartl D, Griese M タイトル Surfactant protein A--from genes to human lung diseases. 雑誌 Curr Med Chem 13:3239-52 (2006) DOI:10.2174/092986706778773112 PMID:21613931 著者 Lawson WE, Loyd JE, Degryse AL タイトル Genetics in pulmonary fibrosis--familial cases provide clues to the pathogenesis of idiopathic pulmonary fibrosis. 雑誌 Am J Med Sci 341:439-43 (2011) DOI:10.1097/MAJ.0b013e31821a9d7a PMID:26846335 著者 Lehtonen ST, Veijola A, Karvonen H, Lappi-Blanco E, Sormunen R, Korpela S, Zagai U, Skold MC, Kaarteenaho R タイトル Pirfenidone and nintedanib modulate properties of fibroblasts and myofibroblasts in idiopathic pulmonary fibrosis. 雑誌 Respir Res 17:14 (2016) DOI:10.1186/s12931-016-0328-5 PMID:24032382 著者 Travis WD, Costabel U, Hansell DM, King TE Jr, Lynch DA, Nicholson AG, Ryerson CJ, Ryu JH, Selman M, Wells AU, Behr J, Bouros D, Brown KK, Colby TV, Collard HR, Cordeiro CR, Cottin V, Crestani B, Drent M, Dudden RF, Egan J, Flaherty K, Hogaboam C, Inoue Y, Johkoh T, Kim DS, Kitaichi M, Loyd J, Martinez FJ, Myers J, Protzko S, Raghu G, Richeldi L, Sverzellati N, Swigris J, Valeyre D タイトル An official American Thoracic Society/European Respiratory Society statement: Update of the international multidisciplinary classification of the idiopathic interstitial pneumonias. 雑誌 Am J Respir Crit Care Med 188:733-48 (2013) DOI:10.1164/rccm.201308-1483ST PMID:15814878 (TERT) 著者 Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, Lansdorp PM, Young NS タイトル Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. 雑誌 N Engl J Med 352:1413-24 (2005) DOI:10.1056/NEJMoa042980 PMID:12090986 (TERC) 著者 Vulliamy T, Marrone A, Dokal I, Mason PJ タイトル Association between aplastic anaemia and mutations in telomerase RNA. 雑誌 Lancet 359:2168-70 (2002) DOI:10.1016/S0140-6736(02)09087-6 PMID:13680361 (SFTPA1) 著者 Selman M, Lin HM, Montano M, Jenkins AL, Estrada A, Lin Z, Wang G, DiAngelo SL, Guo X, Umstead TM, Lang CM, Pardo A, Phelps DS, Floros J タイトル Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis. 雑誌 Hum Genet 113:542-50 (2003) DOI:10.1007/s00439-003-1015-4 PMID:19100526 (SFTPA2) 著者 Wang Y, Kuan PJ, Xing C, Cronkhite JT, Torres F, Rosenblatt RL, DiMaio JM, Kinch LN, Grishin NV, Garcia CK タイトル Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer. 雑誌 Am J Hum Genet 84:52-9 (2009) DOI:10.1016/j.ajhg.2008.11.010 PMID:21506748 (MUC5B) 著者 Zhang Y, Noth I, Garcia JG, Kaminski N タイトル A variant in the promoter of MUC5B and idiopathic pulmonary fibrosis. 雑誌 N Engl J Med 364:1576-7 (2011) DOI:10.1056/NEJMc1013504 PMID:19443464 (SFTPC) 著者 Guillot L, Epaud R, Thouvenin G, Jonard L, Mohsni A, Couderc R, Counil F, de Blic J, Taam RA, Le Bourgeois M, Reix P, Flamein F, Clement A, Feldmann D タイトル New surfactant protein C gene mutations associated with diffuse lung disease. 雑誌 J Med Genet 46:490-4 (2009) DOI:10.1136/jmg.2009.066829 |