Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin-encoding gene

被引：12

作者：

Ardiles, LG ^{[1
]}

Carrasco, AE

Carpio, JD

Mezzano, SA

机构：

[1] Univ Austral Chile, Dept Nephrol, Fac Med, Valdivia, Chile

[2] Univ Austral Chile, Inst Histol & Pathol, Fac Med, Valdivia, Chile

来源：

NEPHROLOGY | 2005年 / 10卷 / 06期

关键词：

familial nephrotic syndrome; focal segmental glomerulosclerosis; NPHS2; podocin;

D O I：

10.1111/j.1440-1797.2005.00481.x

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

A case of two young adult brothers with nephrotic syndrome secondary to focal segmental glomerulosclerosis is reported. Steroid resistance prompted us to perform genetic studies. These showed a compound heterozygous mutation of NPHS2, the gene encoding podocin. It was composed of a missense mutation in exon 7 (A284V) and the non-neutral polymorphism R229Q in exon 5. We review literature supporting the genetic basis of the disease.

引用

页码：553 / 556

页数：4

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