Dickey W, Stewart F, Nelson J, McBreen G, McMillan S A, Porter K G
Department of Medicine, Queen's University of Belfast, Northern Ireland, UK.
Clin Genet. 1996 Feb;49(2):107-8.
Coeliac disease is an important cause of malabsorption, particularly of folic acid, in adults. We investigated the possibility that it might be a maternal risk factor for neural tube defect (NTD)-associated pregnancy by screening affected mothers using serum endomysial antibody (EmA) which has high sensitivity and specificity for coeliac disease. One (1.6%) of 60 patients was EmA positive and had a diagnosis of coeliac disease confirmed by the finding of villous atrophy on jejunal biopsy. In conclusion, the majority of NTD-associated pregnancies are not associated with maternal coeliac disease and our study is additional evidence that abnormalities of folic acid metabolism rather than absorption are the most important risk factors for NTD. Further studies are needed to determine whether the coeliac disease prevalence among women with NTD-affected pregnancy is higher than that of the general population.
乳糜泻是成人吸收不良的一个重要原因，尤其是对叶酸的吸收不良。我们通过使用对乳糜泻具有高敏感性和特异性的血清肌内膜抗体（EmA）筛查受影响的母亲，来研究它是否可能是神经管缺陷（NTD）相关妊娠的一个母体风险因素。60名患者中有1名（1.6%）EmA呈阳性，经空肠活检发现绒毛萎缩确诊为乳糜泻。总之，大多数NTD相关妊娠与母体乳糜泻无关，我们的研究进一步证明，叶酸代谢异常而非吸收异常是NTD最重要的风险因素。需要进一步研究以确定NTD相关妊娠女性中乳糜泻的患病率是否高于一般人群。
