Al-Kouatly Huda B, Felder Laura, Makhamreh Mona M, Kass Stephanie L, Vora Neeta L, Berghella Vincenzo, Berger Seth, Wenger David A, Luzi Paola
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Prenat Diagn. 2020 May;40(6):738-745. doi: 10.1002/pd.5678. Epub 2020 Mar 20.
Nonimmune hydrops fetalis (NIHF) accounts for 90% of hydrops fetalis cases. About 15% to 29% of unexplained NIHF cases are caused by lysosomal storage diseases (LSD). We review the spectrum of LSD and associated clinical findings in NIHF in a cohort of patients referred to our institution.
We present a retrospective case-control study of cases with NIHF referred for LSD biochemical testing at a single center. Cases diagnosed with LSD were matched to controls with NIHF and negative LSD testing and analyzed according to the STROBE criteria to the extent the retrospective nature of this study allowed.
Between January 2006 and December 2018, 28 patients with NIHF were diagnosed with a LSD. Eight types of LSD were diagnosed: galactosialidosis 8/28 (28.6%), sialic acid storage disease (SASD) 5/28 (17.9%), mucopolysaccharidosis VII 5/28 (17.9%), Gaucher 4/28 (14.3%), sialidosis 2/28 (7.1%), GM1 gangliosidosis 2/28 (7.1%), Niemann-Pick disease type C 1/28 (3.6%), and mucolipidosis II/III 1/28 (3.6%). Associated clinical features were hepatomegaly 16/21 (76.2%) vs 22/65 (33.8%), P < .05, splenomegaly 12/20 (60.0%) vs 14/58 (24.1%), P < .05, and hepatosplenomegaly 10/20 (50.0%) vs 13/58 (22.4%) P < .05.
The most common LSD in NIHF were galactosialidosis, SASD, mucopolysaccharidosis VII, and Gaucher disease. LSD should be considered in unexplained NIHF cases, particularly if hepatomegaly, splenomegaly, or hepatosplenomegaly is visualized on prenatal ultrasound.
非免疫性胎儿水肿（NIHF）占胎儿水肿病例的90%。约15%至29%原因不明的NIHF病例由溶酶体贮积病（LSD）引起。我们回顾了转诊至我院的一组患者中LSD的谱系及NIHF相关的临床发现。
我们进行了一项回顾性病例对照研究，研究对象为在单一中心因LSD生化检测而转诊的NIHF病例。将诊断为LSD的病例与LSD检测阴性的NIHF对照进行匹配，并根据STROBE标准进行分析，尽本研究回顾性性质所能允许的程度。
2006年1月至2018年12月期间，28例NIHF患者被诊断患有LSD。诊断出8种LSD：半乳糖唾液酸贮积症8/28（28.6%）、唾液酸贮积病（SASD）5/28（17.9%）、黏多糖贮积症VII型5/28（17.9%）、戈谢病4/28（14.3%）、唾液酸酶缺乏症2/28（7.1%）、GM1神经节苷脂贮积症2/28（7.1%）、尼曼-匹克病C型1/28（3.6%）和黏脂贮积症II/III型1/28（3.6%）。相关临床特征为肝肿大16/21（76.2%）对比22/65（33.8%），P<0.05；脾肿大12/20（60.0%）对比14/58（24.1%），P<0.05；肝脾肿大10/20（50.0%）对比13/58（22.4%），P<0.05。
NIHF中最常见的LSD为半乳糖唾液酸贮积症、SASD、黏多糖贮积症VII型和戈谢病。原因不明的NIHF病例应考虑LSD，尤其是产前超声显示有肝肿大、脾肿大或肝脾肿大时。
