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VII型黏多糖贮积症所致复发性胎儿水肿

Recurrent fetal hydrops due to mucopolysaccharidoses type VII.

作者信息

Venkat-Raman Narayanaswamy, Sebire Neil J, Murphy Karl W

机构信息

Fetal Medicine Unit, St Mary's Hospital, London, UK.

出版信息

Fetal Diagn Ther. 2006;21(3):250-4. doi: 10.1159/000091350.

Abstract

Hydrops fetalis is associated with a wide range of abnormalities. In about 20% of cases of non-immune fetal hydrops, no cause is found despite investigations including routine post-mortem examination and enzyme studies may be indicated to detect an underlying metabolic storage disease. Fetal hydrops due to mucopolysaccharidosis type VII is very rare and a prenatal diagnosis is not usually made. We report a case of mucopolysaccharidosis type VII presenting as recurrent fetal hydrops and review the clinico-pathological features of this disorder.

摘要

胎儿水肿与多种异常情况相关。在约20%的非免疫性胎儿水肿病例中,尽管进行了包括常规尸检和酶学研究在内的检查,但仍未发现病因,这些检查可能有助于检测潜在的代谢性贮积病。由VII型黏多糖贮积症引起的胎儿水肿非常罕见,通常无法进行产前诊断。我们报告一例以复发性胎儿水肿为表现的VII型黏多糖贮积症病例,并回顾该疾病的临床病理特征。

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