학술논문
Clinical features of fetal hydrothorax associated with mucopolysaccharidosis‐VII.
Document Type
Article
Author
Source
Subject
*DIAGNOSIS of fetal diseases
*PLEURAL effusions
*GESTATIONAL age
*LYSOSOMAL storage diseases
*ASCITES
*PREGNANCY outcomes
*CASE studies
*INBORN errors of metabolism
*PLEURA diseases
*GYNECOLOGIC care
*HYDROPS fetalis
*SKIN abnormalities
*PHENOTYPES
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Language
ISSN
1341-8076
Abstract
Mucopolysaccharidosis (MPS)‐VII, called Sly disease, is a lysosomal storage disorder that can cause fetal hydrops, including fetal hydrothorax (FHT). We describe two fetal cases that received thoracoamniotic shunting for FHT, which was later found to be associated with MPS‐VII by exome sequencing. Bilateral FHT accompanied by skin edema and ascites was found before 20 weeks of gestation in both cases. One fetus died in utero at 35 weeks of gestation, and the other survived with preterm delivery at 30 weeks of gestation. Both cases inherited compound pathogenic variants of GUSB from parents. Comparison with previously reported primary FHT cases revealed distinct clinical features in MPS‐VII‐associated FHT: early gestational age at diagnosis (<26 weeks), bilateral effusion, skin edema with ascites, and poor survival. A genetic analysis would be considered for FHT cases, with consideration of shunting when they show early‐onset bilateral effusions with skin edema and ascites. [ABSTRACT FROM AUTHOR]