| H00578 | |
| H number | H00578 |
| Name | Epstein syndrome |
| Description | 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. |
| Category | Cardiovascular disease |
| Network | - |
| Gene | MYH9 [HSA:4627] [KO:K10352] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 3B64.01 ICD-10: D69.4 MeSH: C535507 OMIM: 153650 |
| Reference | PMID:18094725 AUTHORS Gubler MC TITLE Inherited diseases of the glomerular basement membrane. JOURNAL Nat Clin Pract Nephrol 4:24-37 (2008) DOI:10.1038/ncpneph0671 PMID:21071975 AUTHORS Kashtan CE, Segal Y TITLE Genetic disorders of glomerular basement membranes. JOURNAL Nephron Clin Pract 118:c9-c18 (2011) DOI:10.1159/000320876 PMID:21210153 AUTHORS Han KH, Lee H, Kang HG, Moon KC, Lee JH, Park YS, Ha IS, Ahn HS, Choi Y, Cheong HI TITLE Renal manifestations of patients with MYH9-related disorders. JOURNAL Pediatr Nephrol 26:549-55 (2011) DOI:10.1007/s00467-010-1735-3 PMID:18503011 AUTHORS Pecci A, Granata A, Fiore CE, Balduini CL TITLE Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). JOURNAL Nephrol Dial Transplant 23:2690-2 (2008) DOI:10.1093/ndt/gfn277 |