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
收藏
页码：101 / 103
页数：3
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