Полиморфные маркеры гена нефрина ( NPHS1) при спорадическом стероид-резистентном нефротическом синдроме у детей
Abstract
The results of a cohort study of potential association with single nucleotide polymorphisms (SNP) in the NPHS1 gene that encodes nephrin, with the efficacy of immunosuppressive treatment and progression of sporadic SRNS in children are presented. Fifty-three children with primary non-familial SRNS aged 16,0 (12,0; 17,0) years were studied. Renal biopsy showed FSGS in 49,1%, mesangial proliferative GN in 22,6%, MPGN in 15,1%, membranous nephropathy in 7,5% and MCD in 5,7% of patients. Low frequency of heterozygous mutations in the NPHS1 gene (1,9%) in children with sporadic SRNS was found. Four types of SNP in the NPHS1 gene were identified in 58,5% children, majority of the SNP were heterozygous. Efficacy of immunosuppressive treatment was not different significantly in patients with SNP in comparison those without them. There was no significant differences in the frequency of GFR <60 mL/min/1,73 m2, the rate of eGFR declined per year and cumulative renal survival in patients with SNP in the NPHS1 gene. An association of the SNP in NPHS1 gene and progression of sporadic SRNS in children was not found.
About the Authors
L. S. Prikhodina
Moscow Research Institute of Pediatry and Children Surgery, Russian Ministry of Health
Russian Federation
Russian Federation
O. P. Ryzhkova
Medico-genetical Research Centre, the Russian Academy of Medical Sciences, Moscow
Russian Federation
Russian Federation
A. V. Polyakov
Medico-genetical Research Centre, the Russian Academy of Medical Sciences, Moscow
Russian Federation
Russian Federation
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Prikhodina L.S., Ryzhkova O.P., Polyakov A.V. . Nephrology and Dialysis. 2012;14(1):56-62. (In Russ.)
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