Steroid-resistant nephrotic syndrome and MYO1E mutation
10.3760/cma.j.issn.1673-4408.2014.04.015
- VernacularTitle:激素耐药型肾病综合征与MYO1 E基因突变
- Author:
Feng ZHAO
;
Zihua YU
- Publication Type:Journal Article
- Keywords:
Steroid-resistant nephrotic syndrome;
MYO1E gene;
Mutation
- From:
International Journal of Pediatrics
2014;(4):389-393
- CountryChina
- Language:Chinese
-
Abstract:
MYO1E gene is located on chromosome 15 and encodes myosin 1e,which acts as an actin-based molecular motor of cytoskeleton. Myosin 1e is critical to maintain the podocyte function and the conse-quent integrity of the glomerular filtration barrier. Mutations in MYO1E gene has been indentified to be the cause of childhood-onset,familial steroid-resistant focal segmental glomerulosclerosis. Surprisingly,three patients with MYO1E mutations had partial remission by cyclosporine therapy. Detection of the MYO1E gene in the patients suffering from steroid-resistant nephrotic syndrome will be beneficial to make therapeutic decisions and predict prognoses.
