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.
摘要:
粘多糖贮积症(MPS)-VII,叫做狡猾的疾病,是一种溶酶体贮积症,可导致胎儿水肿,包括胎儿胸腔积液(FHT)。我们描述了两例接受FHT的胸羊膜分流术的胎儿病例,后来通过外显子组测序发现与MPS-VII相关。在两种情况下,在妊娠20周前均发现双侧FHT伴有皮肤水肿和腹水。一名胎儿在妊娠35周时在子宫内死亡,另一个在妊娠30周时早产存活。两种情况都从父母那里继承了GUSB的复合致病变体。与先前报道的原发性FHT病例相比,MPS-VII相关FHT具有明显的临床特征:诊断时的胎龄较早(<26周),双侧积液,皮肤水肿伴腹水,可怜的生存。将考虑对FHT病例进行遗传分析,当他们显示早发性双侧积液伴皮肤水肿和腹水时,考虑分流。