| H00288 | |
| H番号 | H00288 |
| 名称 | 家族性地中海熱 |
| 概要 | Familial Mediterranean fever (FMF) is the most prevalent hereditary periodic fever, affecting 0.1% in people of Mediterranean descent. It is also reported throughout the world's populations. FMF is an autosomal recessive disorder caused by missense mutations in the MEFV gene, which encodes the pyrin protein. Mutations in pyrin may lead to uncontrolled inflammation due to IL-1beta hyperactivation. FMF is characterized by recurrent inflammatory fevers with sterile peritonitis, pleuritis, arthritis, myalgia and erysipelas-like skin lesions. Renal amyloidosis is the most severe complication, leads to renal failure. These symptoms start before 20 years of age in about 90% of cases. |
| カテゴリ | 免疫系疾患 |
| ネットワーク | nt06521(H00288) NLR signaling |
| 病因遺伝子 | MEFV [HSA:4210] [KO:K12803] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | コルヒチン [DR:D00570] カナキヌマブ [DR:D09315] |
| コメント | - |
| リンク | ICD-11: 4A60.0 ICD-10: E85.0 MeSH: D010505 OMIM: 249100 134610 |
| 文献 | PMID:19339884 著者 Guz G, Kanbay M, Ozturk MA タイトル Current perspectives on familial Mediterranean fever. 雑誌 Curr Opin Infect Dis 22:309-15 (2009) DOI:10.1097/QCO.0b013e328329d15e PMID:17911435 著者 Bhat A, Naguwa SM, Gershwin ME タイトル Genetics and new treatment modalities for familial Mediterranean fever. 雑誌 Ann N Y Acad Sci 1110:201-8 (2007) DOI:10.1196/annals.1423.022 PMID:11464238 (MEFV) 著者 Touitou I タイトル The spectrum of Familial Mediterranean Fever (FMF) mutations. 雑誌 Eur J Hum Genet 9:473-83 (2001) DOI:10.1038/sj.ejhg.5200658 |