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绒毛采样技术的推广,使许多代谢性疾病能在妊娠头三个月进行产前诊断,但至今尚无关于Fabry′s病的报告。 Fabry′s病是由于缺乏α-半乳糖甙酶所引起的溶酶体鞘脂贮积病,为X-连锁遗传。其临床表现,如血管角质瘤及肢端剧痛,可发生于童年或青春期,患者常在成年后死于肾功能衰竭、心脏病或脑血管病。已有人通过培养羊水细胞测定胎儿性别及酶的分析对Fabry′s病进行产前诊断,但从Brady等的首次报告后仅有数例报道。本文介绍对来自同一家系的三位母亲六次有Fabry′s病危险的妊娠进行产前诊断的资料。
The promotion of villus sampling technology has enabled many metabolic diseases to be diagnosed in the first trimester of pregnancy, but so far there is no report of Fabry’s disease. Fabry’s disease is a lysosomal sphingolipid storage disease caused by the lack of α-galactosidase and is inherited by X-linked. Its clinical manifestations, such as angiosarcoma and acral pain, can occur in childhood or adolescence, patients often die of renal failure, heart disease or cerebrovascular disease in adulthood. Fabry’s disease has been diagnosed prenatally by analysis of fetal gender and enzyme in cultured amniocytes, but only a few have been reported since Brady et al.’s first report. This article presents information on prenatal diagnosis of three pregnancies at risk of Fabry’s disease among three mothers from the same pedigree.