Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation

被引：10

作者：

Hegele, RA ^{[1
]}

Miskie, BA ^{[1
]}

机构：

[1] John P Robarts Res Inst, Blackburn Cardiovasc Genet, London, ON N6A 5K8, Canada

来源：

CLINICAL GENETICS | 2002年 / 61卷 / 02期

关键词：

D O I：

10.1034/j.1399-0004.2002.610204.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on acanthocytosis in a 31-year-old woman with homozygous familial hypobetalipoproteinemia due to a mutation affecting the splicing of the APOB gene encoding apolipoprotein B. Treatment with fat-soluble vitamins was associated with arrest of the usually progressive neurological complications of this condition. However, the acanthocytosis - literally 'thorny' erythrocytes that result from abnormal membrane fluidity persists despite treatment.

引用

页码：101 / 103

页数：3

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