Advance in diagnosis and therapy of Alport syndrome
10.3760/cma.j.issn.1673-4408.2011.04.034
- VernacularTitle:Alport综合征的诊治研究进展
- Author:
Wang WEI
;
Zhao YAN
- Publication Type:Journal Article
- Keywords:
Alport syndrome;
Type Ⅳ collagen;
Gene
- From:
International Journal of Pediatrics
2011;38(4):419-420,封3
- CountryChina
- Language:Chinese
-
Abstract:
Alport syndrome (AS) is a hereditary glomerular basement membrane disease characterized by hematuria, progressive renal hypofunction, usually with nervous deafness and ocular lesions, and its pathogenesis is the mutation in genes encoding the type Ⅳ collagen. Diagnosis of AS should combine with clinical manifestations, renal pathologic changes, immunofluorescence examination and gene diagnosis. At present, AS hasn t had any cure measure yet. As the pathogenesis of AS is much clearer in recent years, the researches of gene diagnosis and gene therapy have got some gratifying achievements.
