Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.
Adult
Ascites
/ diagnostic imaging
Case-Control Studies
Edema
/ diagnostic imaging
Female
Gaucher Disease
/ complications
Gestational Age
Hepatomegaly
/ diagnostic imaging
Humans
Hydrops Fetalis
/ diagnostic imaging
Infant, Newborn
Lysosomal Storage Diseases
/ complications
Male
Mucolipidoses
/ complications
Mucopolysaccharidosis VII
/ complications
Niemann-Pick Disease, Type C
/ complications
Pericardial Effusion
/ diagnostic imaging
Pleural Effusion
/ diagnostic imaging
Polyhydramnios
/ diagnostic imaging
Pregnancy
Prenatal Diagnosis
Retrospective Studies
Sialic Acid Storage Disease
/ complications
Skin
/ diagnostic imaging
Splenomegaly
/ diagnostic imaging
Young Adult
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
05 2020
05 2020
Historique:
received:
02
11
2019
revised:
27
02
2020
accepted:
29
02
2020
pubmed:
7
3
2020
medline:
22
6
2021
entrez:
6
3
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32134517
doi: 10.1002/pd.5678
pmc: PMC7260084
mid: NIHMS1577438
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
738-745Subventions
Organisme : NICHD NIH HHS
ID : K23 HD088742
Pays : United States
Informations de copyright
© 2020 John Wiley & Sons, Ltd.
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