Wilcken B, Leung K C, Hammond J, Kamath R, Leonard J V
Oliver Latham Laboratory, New South Wales Health Department, Sydney, Australia.
Lancet. 1993 Feb 13;341(8842):407-8. doi: 10.1016/0140-6736(93)92993-4.
We report on eleven pregnancies in 5 mothers. 6 of the babies had long-chain 3-hydroxyacyl coenzyme A dehydrogenase (LCHAD) deficiency, and each of the pregnancies was complicated by features such as fatty liver and HELLP (haemolysis, elevated liver enzymes, low platelets) syndrome. By contrast, 3 of the mothers also gave birth to unaffected babies, and these pregnancies were largely uncomplicated. We conclude that there may be adverse effects on maternal liver function from a fetus with LCHAD deficiency. Heterozygosity in the mother cannot alone account for the adverse effects because of the segregation of these effects with fetal LCHAD status.
我们报告了5名母亲的11次妊娠情况。其中6名婴儿患有长链3-羟酰基辅酶A脱氢酶(LCHAD)缺乏症,每次妊娠都伴有脂肪肝和HELLP(溶血、肝酶升高、血小板减少)综合征等特征。相比之下,3名母亲也生下了未受影响的婴儿,这些妊娠基本没有并发症。我们得出结论,LCHAD缺乏症胎儿可能会对母亲的肝功能产生不良影响。母亲的杂合性本身并不能解释这些不良影响,因为这些影响与胎儿的LCHAD状态相关。