VII型黏多糖贮积症作为复发性非免疫性胎儿水肿的一个病因。
Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis.
作者信息
Cheng Yvonne, Verp Marion S, Knutel Terri, Hibbard Judith U
机构信息
University of Chicago, Department of Obstetrics and Gynecology, Section of Maternal-Fetal Medicine, Chicago 60637, USA.
出版信息
J Perinat Med. 2003;31(6):535-7. doi: 10.1515/JPM.2003.083.
BACKGROUND
Mucopolysaccharidosis type VII (MPS VII) is a rare lysosomal storage disease first described by Sly in 1973. There are fewer than thirty reported cases world wide. This extremely rare disorder can present in-utero as hydrops fetalis and has a high recurrence rate. However, prenatal diagnosis in the absence of a previously affected child, has not been reported to date.
CASE
This is a case of a non-consanguineous couple, with no history of a previously affected child with MPS VII, presenting with recurrent hydrops fetalis. During the work-up, the affected fetus was diagnosed in-utero with beta-glucuronidase deficiency which is pathognomonic for MPS VII. Prenatal diagnosis was then performed in subsequent pregnancies.
CONCLUSION
The importance of an extensive and thorough investigation for the etiology of hydrops fetalis is discussed.
背景
黏多糖贮积症VII型（MPS VII）是一种罕见的溶酶体贮积病，于1973年由斯利首次描述。全球报告的病例少于30例。这种极其罕见的疾病可在子宫内表现为胎儿水肿，且复发率很高。然而，迄今为止，尚无在无先前患病儿童的情况下进行产前诊断的报道。
病例
这是一对非近亲结婚的夫妇，他们没有先前有MPS VII患病儿童的病史，此次出现复发性胎儿水肿。在检查过程中，宫内受影响的胎儿被诊断为β-葡萄糖醛酸酶缺乏，这是MPS VII的特征性表现。随后在后续妊娠中进行了产前诊断。
结论
讨论了对胎儿水肿病因进行广泛而彻底调查的重要性。
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