| H00218 | |
| H番号 | H00218 |
| 名称 | 嚢胞性線維症 |
| 概要 | Cystic fibrosis (CF) is an autosomal recessive disorder of the exocrine glands caused by mutation of CFTR gene which encodes an ABC transporter for salt homeostasis. CF is a common lethal single-gene disorder in Caucasians with an incidence of 1 in 1500 to 1 in 6500, whereas it is rare among Orientals (1:90000). The common clinical features are chronic pulmonary infection with Pseudomonas aeruginosa, respiratory distress, and pancreatic insufficiency. A part of patients with CF present with a gastrointestinal blockage known as meconium ileus. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | CFTR [HSA:1080] [KO:K05031] TGFB1 [HSA:7040] [KO:K13375] FCGR2A [HSA:2212] [KO:K06472] |
| 病原体 | Pandoraea fibrosis 6399 [GN:pfib] |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | トブラマイシン [DR:D00063] D-マンニトール [DR:D00062] アセチルシステイン [DR:D00221] ドルナーゼアルファ [DR:D03896] |
| コメント | - |
| リンク | ICD-11: CA25 ICD-10: E84 MeSH: D003550 OMIM: 219700 |
| 文献 | PMID:18193900 著者 Cheung JC, Deber CM タイトル Misfolding of the cystic fibrosis transmembrane conductance regulator and disease. 雑誌 Biochemistry 47:1465-73 (2008) DOI:10.1021/bi702209s PMID:16554808 著者 Gadsby DC, Vergani P, Csanady L タイトル The ABC protein turned chloride channel whose failure causes cystic fibrosis. 雑誌 Nature 440:477-83 (2006) DOI:10.1038/nature04712 PMID:11932230 著者 Lyczak JB, Cannon CL, Pier GB タイトル Lung infections associated with cystic fibrosis. 雑誌 Clin Microbiol Rev 15:194-222 (2002) DOI:10.1128/CMR.15.2.194–222.2002 PMID:18424453 (CFTR TGFB1) 著者 Bremer LA, Blackman SM, Vanscoy LL, McDougal KE, Bowers A, Naughton KM, Cutler DJ, Cutting GR タイトル Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis. 雑誌 Hum Mol Genet 17:2228-37 (2008) DOI:10.1093/hmg/ddn123 PMID:15367919 (FCGR2A) 著者 De Rose V, Arduino C, Cappello N, Piana R, Salmin P, Bardessono M, Goia M, Padoan R, Bignamini E, Costantini D, Pizzamiglio G, Bennato V, Colombo C, Giunta A, Piazza A タイトル Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis. 雑誌 Eur J Hum Genet 13:96-101 (2005) DOI:10.1038/sj.ejhg.5201285 |