II型黏多糖贮积症（亨特综合征）的产前诊断与遗传咨询

Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome).

作者信息

Chen C P, Lin S P, Tzen C Y, Hwu W L, Chern S R, Chuang C K, Chiang S S, Wang W

机构信息

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.

出版信息

Genet Couns. 2007;18(1):49-56.

PMID:17515300

Abstract

We present prenatal diagnosis of mucopolysaccharidosis type II (MPS II) (Hunter syndrome) and demonstrate marked mucopolysaccharide deposition in multiple vital organs in a 22-gestational-week affected fetus. Level II ultrasound showed cardiomegaly and hepatomegaly. Histological examinations of the fetal vital organs manifested marked mucopolysaccharide deposition. We suggest that any therapeutic approach and counseling for prenatally diagnosed MPS II should consider the early signs of in utero marked mucopolysaccharide storage.

摘要

我们报告了II型粘多糖贮积症（MPS II）（亨特综合征）的产前诊断，并展示了一名孕22周受影响胎儿的多个重要器官中存在明显的粘多糖沉积。二级超声显示心脏肥大和肝脏肿大。对胎儿重要器官的组织学检查显示有明显的粘多糖沉积。我们建议，对于产前诊断为MPS II的任何治疗方法和咨询都应考虑子宫内明显粘多糖储存的早期迹象。