表现为单纯新生儿腹水的VII型黏多糖贮积症。

Mucopolysaccharidosis Type VII presenting with isolated neonatal ascites.

作者信息

Saxonhouse Matthew Adam, Behnke Marylou, Williams Jonathan L, Richards Douglas, Weiss Michael D

机构信息

Department of Pediatrics, University of Florida, Gainesville 32610, USA.

出版信息

J Perinatol. 2003 Jan;23(1):73-5. doi: 10.1038/sj.jp.7210844.

DOI:10.1038/sj.jp.7210844

PMID:12556933

Abstract

Mucopolysaccharidosis Type VII (MPS VII) is a lysosomal storage disease caused by a deficiency of the enzyme, beta-glucuronidase. MPS VII has a wide variation in phenotypic expression, including presentation in the neonatal period with nonimmune hydrops fetalis. We report a neonate with MPS VII who initially presented with marked isolated ascites not associated with hydrops fetalis. This appears to be a novel finding in patients with MPS VII.

摘要

黏多糖贮积症VII型（MPS VII）是一种溶酶体贮积病，由β-葡萄糖醛酸酶缺乏引起。MPS VII的表型表达差异很大，包括在新生儿期表现为非免疫性胎儿水肿。我们报告了一名患有MPS VII的新生儿，其最初表现为明显的孤立性腹水，与胎儿水肿无关。这在MPS VII患者中似乎是一个新发现。