Steroid-resistant nephrotic syndrome and CD2AP gene / 国际儿科学杂志
International Journal of Pediatrics
;
(6): 512-515, 2011.
Article
in Chinese
| WPRIM
| ID: wpr-421390
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
International Journal of Pediatrics
Year:
2011
Type:
Article
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