Steroid-resistant nephrotic syndrome and CD2AP gene
10.3760/cma.j.issn.1673-4408.2011.05.028
- VernacularTitle:激素耐药型肾病综合征与CD2AP基因
- Author:
Dachuan MENG
- Publication Type:Journal Article
- Keywords:
Steroid - resistant nephrotic syndrome;
CD2AP gene;
Mutation
- From:
International Journal of Pediatrics
2011;38(5):512-515
- CountryChina
- Language:Chinese
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Abstract:
Mutations in CD2AP, mapped to 6pL2. 3 and encoding CD2 - associated protein ( CD2AP), are responsible for autosomal recessive or autosomal dominant steroid - resistant nephrotic syndrome (SRNS). CD2AP plays a key role in the slitdiaphragm network of the kidney, which is necessary for the structure and ultrafiltration functions of the slitdiaphragm. The CD2AP homozygous mutation results in early - onset SRNS while heterozygous expression of the CD2AP mutation has increased susceptibility to glomerular injury.No recurrence of proteinuria was observed in the patient with SRNS with CD2AP homozygousmutationafter the renal transplantation. Therefore, detection of the CD2AP gene in the patients suffering from SRNS will be beneficial to making therapeutic decisions and predicting prognoses.
