| H00578 | |
| H番号 | H00578 |
| 名称 | エプスタイン症候群 |
| 概要 | Epstein syndrome is a rare autosomal dominant progressive nephropathy associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. It is linked to mutations in MYH9, the nonmuscle myosin heavy chain. It has been suggested that renoprotective treatment by renin-angiotensin system blockade is effective in reducing proteinuria in patients with MYH9 nephropathy. |
| カテゴリ | 循環器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | MYH9 [HSA:4627] [KO:K10352] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 3B64.01 ICD-10: D69.4 MeSH: C535507 OMIM: 153650 |
| 文献 | PMID:18094725 著者 Gubler MC タイトル Inherited diseases of the glomerular basement membrane. 雑誌 Nat Clin Pract Nephrol 4:24-37 (2008) DOI:10.1038/ncpneph0671 PMID:21071975 著者 Kashtan CE, Segal Y タイトル Genetic disorders of glomerular basement membranes. 雑誌 Nephron Clin Pract 118:c9-c18 (2011) DOI:10.1159/000320876 PMID:21210153 著者 Han KH, Lee H, Kang HG, Moon KC, Lee JH, Park YS, Ha IS, Ahn HS, Choi Y, Cheong HI タイトル Renal manifestations of patients with MYH9-related disorders. 雑誌 Pediatr Nephrol 26:549-55 (2011) DOI:10.1007/s00467-010-1735-3 PMID:18503011 著者 Pecci A, Granata A, Fiore CE, Balduini CL タイトル Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). 雑誌 Nephrol Dial Transplant 23:2690-2 (2008) DOI:10.1093/ndt/gfn277 |