儿童孔洞脑畸形中的凝血因子V莱顿突变及遗传性易栓症缺陷
Factor V Leiden and genetic defects of thrombophilia in childhood porencephaly.
作者信息
Debus O, Koch H G, Kurlemann G, Sträter R, Vielhaber H, Weber P, Nowak-Göttl U
机构信息
Department of Paediatrics, University Hospital Munster, Germany.
出版信息
Arch Dis Child Fetal Neonatal Ed. 1998 Mar;78(2):F121-4. doi: 10.1136/fn.78.2.f121.
AIMS
To determine to what extent the Arg506 to Gln point mutation in the factor V gene and further genetic factors of thrombophilia affect the risk of porencephaly in neonates and infants.
METHODS
The Arg506 to Gln mutation, factor V, protein C, protein S, antithrombin, antiphospholipid antibodies and lipoprotein (a) (Lp(a)) were retrospectively measured in neonates and children with porencephaly (n = 24).
RESULTS
Genetic risk factors for thrombophilia were diagnosed in 16 of these 24 patients: heterozygous factor V Leiden (n = 3); protein C deficiency type I (n = 6); increased Lp (a) (n = 3); and protein S type I deficiency (n = 1). Three of the 16 infants had two genetic risk factors of thrombophilia: factor V Leiden mutation combined with increased familial Lp (a) was found in two, and factor V Leiden mutation with protein S deficiency type I in one.
CONCLUSIONS
The findings indicate that deficiencies in the protein C anticoagulant pathway have an important role in the aetiology of congenital porencephaly.
目的
确定凝血因子V基因中第506位精氨酸至谷氨酰胺的点突变以及其他血栓形成倾向的遗传因素在多大程度上影响新生儿和婴儿患脑穿通畸形的风险。
方法
对24例脑穿通畸形的新生儿和儿童进行回顾性检测，检测凝血因子V基因中第506位精氨酸至谷氨酰胺的突变、凝血因子V、蛋白C、蛋白S、抗凝血酶、抗磷脂抗体和脂蛋白(a)[Lp(a)]。
结果
这24例患者中有16例被诊断为血栓形成倾向的遗传危险因素：杂合子凝血因子V莱顿突变（3例）；I型蛋白C缺乏症（6例）；Lp(a)升高（3例）；I型蛋白S缺乏症（1例）。16例婴儿中有3例具有两种血栓形成倾向的遗传危险因素：2例发现凝血因子V莱顿突变合并家族性Lp(a)升高，1例为凝血因子V莱顿突变合并I型蛋白S缺乏症。
结论
研究结果表明，蛋白C抗凝途径缺陷在先天性脑穿通畸形的病因中起重要作用。
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