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白细胞黏附缺陷的产前诊断程序

Prenatal diagnostic procedure for leukocyte adhesion deficiency.

作者信息

Weening R S, Bredius R G, Wolf H, van der Schoot C E

机构信息

Emma Children's Hospital, Department of Paediatrics, Amsterdam, The Netherlands.

出版信息

Prenat Diagn. 1991 Mar;11(3):193-7. doi: 10.1002/pd.1970110309.

Abstract

Leukocyte adhesion deficiency (LAD) is a rare autosomal recessive disorder which leads to recurrent severe infections due to impaired leukocyte functions. The disorder is caused by an absence or deficiency of leukocyte cell adhesion molecules (LeuCAMs) on the leukocyte membranes. The diagnosis is established with monoclonal antibodies against the LeuCAMs. We have carried out a prenatal diagnostic procedure by means of cordocentesis in a mother who was 20 weeks pregnant and had previously given birth to a child with LAD. This previous child had the severe form of LAD with undetectable mRNA for the beta chain, the common subunit of the LeuCAMs. We found that the fetal granulocytes expressed the LeuCAMs normally. At birth, the baby was physically normal and showed no signs of impaired leukocyte functions.

摘要

白细胞黏附缺陷症(LAD)是一种罕见的常染色体隐性疾病,由于白细胞功能受损导致反复发生严重感染。该疾病是由白细胞膜上白细胞细胞黏附分子(LeuCAMs)缺失或缺乏引起的。通过针对LeuCAMs的单克隆抗体进行诊断。我们对一名怀孕20周、此前生育过一名患有LAD患儿的母亲进行了经皮脐血穿刺产前诊断程序。这名之前的患儿患有严重形式的LAD,其LeuCAMs的共同亚基β链的mRNA检测不到。我们发现胎儿粒细胞正常表达LeuCAMs。出生时,婴儿身体正常,没有白细胞功能受损的迹象。

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