Lissens W, Dedobbeleer G, Foulon W, De Catte L, Charels K, Goossens A, Liebaers I
Department of Medical Genetics, University Hospital, the Vrije Universiteit Brussels, Belgium.
Prenat Diagn. 1991 Jun;11(6):405-10. doi: 10.1002/pd.1970110612.
We describe a case of beta-glucuronidase deficiency presenting as a non-immune hydrops fetalis diagnosed at 26 weeks of gestation. The deficiency was disclosed on cultured amniotic fluid cells and in fetal plasma and was confirmed post-abortion. In a second pregnancy, a normal beta-glucuronidase activity was found in extracts of chorionic villi obtained at 10 weeks of gestation. The pregnancy is continuing uneventfully. We conclude that it is of great importance to verify the presence of metabolic disease whenever the major causes of hydrops fetalis have been excluded.
我们描述了一例β-葡萄糖醛酸酶缺乏症，该病例表现为妊娠26周时诊断出的非免疫性胎儿水肿。在培养的羊水细胞和胎儿血浆中发现了这种缺乏，并在流产后得到证实。在第二次怀孕时，在妊娠10周时获取的绒毛膜绒毛提取物中发现β-葡萄糖醛酸酶活性正常。此次妊娠进展顺利。我们得出结论，当排除胎儿水肿的主要原因后，确认代谢疾病的存在非常重要。
