RECURRENT HEMOLYTIC UREMIC SYNDROME AND ACQUIRED HYPOMORPHIC VARIANT OF THE 3RD COMPONENT OF COMPLEMENT

被引：35

作者：

ROODHOOFT, AM

MCLEAN, RH

ELST, E

VANACKER, KJ

机构：

[1] Department of Paediatrics, Division of Paediatric Nephrology, University of Antwerp, Antwerp

[2] Division of Paediatric Nephrology, Johns Hopkins University, Baltimore, Maryland

来源：

PEDIATRIC NEPHROLOGY | 1990年 / 4卷 / 06期

关键词：

HEMOLYTIC UREMIC SYNDROME; COMPLEMENT;

D O I：

10.1007/BF00858631

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

In a girl with recurrent haemolytic uraemic syndrome (HUS), persistently low serum levels of C3 were found. Analysis of complement phenotype revealed a hypomorphic variant of C3 Fast in the patient (C3fS) and a normal heterozygous pattern in both parents and the brother (C3FS). Other complement aberrations in the patient were: the presence of a null gene for C4A and C4B and low serum levels of factor H. The father also had partial factor H deficiency. It is hypothesized that the hypomorphic C3 variant may predispose to recurrent HUS. In the acquired forms the role of uraemia in alteration of C3F should be considered.

引用

页码：597 / 599

页数：3

共 12 条

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