Chisholm C A, Vavelidis F, Lovell M A, Sweetman L, Roe C R, Roe D S, Frerman F E, Wilson W G
Department of Obstetrics and Gynecology, University of Virginia School of Medicine, Charlottesville, VA, USA.
Prenat Diagn. 2001 Oct;21(10):856-9. doi: 10.1002/pd.157.
We report the occurrence of multiple acyl-CoA dehydrogenase deficiency (MADD) in two consecutive pregnancies in a young, Caucasian, non-consanguineous couple. In the first pregnancy, the maternal serum alpha-fetoprotein was elevated. A sonogram showed growth delay, cystic renal disease, and oligohydramnios; the parents decided to terminate the pregnancy. Postmortem examination confirmed the cystic renal disease and showed hepatic steatosis, raising the suspicion of a metabolic disorder. The diagnosis of MADD was made by immunoblot studies on cultured fibroblasts. In the subsequent pregnancy, a sonogram at 15 weeks' gestation showed an early growth delay but normal kidneys. The maternal serum and amniotic fluid concentrations of alpha-fetoprotein were elevated, and the amniotic fluid acylcarnitine profile was consistent with MADD. In vitro metabolic studies on cultured amniocytes confirmed the diagnosis. A follow-up sonogram showed cystic renal changes. These cases provide additional information regarding the evolution of renal changes in affected fetuses and show a relationship with elevated alpha-fetoprotein, which may be useful in counseling the couple at risk. MADD should be considered in the differential diagnosis of elevated alpha-fetoprotein and cystic renal disease. Early growth delay may be an additional feature.
我们报告了一对年轻的、非近亲结婚的白种夫妇连续两次怀孕时出现的多种酰基辅酶A脱氢酶缺乏症（MADD）。第一次怀孕时，孕妇血清甲胎蛋白升高。超声检查显示胎儿生长迟缓、多囊肾病和羊水过少；父母决定终止妊娠。尸检证实了多囊肾病，并显示有肝脂肪变性，这引发了对代谢紊乱的怀疑。通过对培养的成纤维细胞进行免疫印迹研究确诊为MADD。在随后的怀孕中，妊娠15周时的超声检查显示早期生长迟缓但肾脏正常。孕妇血清和羊水甲胎蛋白浓度升高，羊水酰基肉碱谱与MADD一致。对培养的羊膜细胞进行的体外代谢研究确诊了该病。后续超声检查显示有多囊肾改变。这些病例提供了有关受影响胎儿肾脏变化演变的更多信息，并显示与甲胎蛋白升高有关，这可能有助于为有风险的夫妇提供咨询。在甲胎蛋白升高和多囊肾病的鉴别诊断中应考虑MADD。早期生长迟缓可能是另一个特征。
