Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study

Autor: Neeta L. Vora, Mona M. Makhamreh, Paola Luzi, Seth I. Berger, David A. Wenger, Huda B. Al-Kouatly, Vincenzo Berghella, Laura Felder, Stephanie Kass
Rok vydání: 2020
Předmět:
Male
0301 basic medicine
Hydrops Fetalis
Hepatosplenomegaly
Mucopolysaccharidosis VII
030105 genetics & heredity
Gastroenterology
0302 clinical medicine
Mucolipidoses
Pregnancy
Prenatal Diagnosis
Lysosomal storage disease
Edema
Genetics (clinical)
Skin
030219 obstetrics & reproductive medicine
Ascites
Obstetrics and Gynecology
Niemann-Pick Disease
Type C
Sialic Acid Storage Disease
Female
medicine.symptom
Galactosialidosis
Hepatomegaly
Adult
Polyhydramnios
medicine.medical_specialty
Gestational Age
Pericardial Effusion
Article
Young Adult
03 medical and health sciences
Internal medicine
Hydrops fetalis
medicine
Humans
Sialidosis
Retrospective Studies
Gaucher Disease
business.industry
Infant
Newborn
Case-control study
medicine.disease
Lysosomal Storage Diseases
Pleural Effusion
Case-Control Studies
Splenomegaly
business
Zdroj: Prenat Diagn
ISSN: 1097-0223
0197-3851
Popis: OBJECTIVES 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. METHODS 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. RESULTS 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
Databáze: OpenAIRE
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