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

Prenatal Diagnosis
Huda B Al-KouatlyPaola Luzi

Abstract

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 g...Continue Reading

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Citations

Aug 20, 2019·Journal of Inherited Metabolic Disease·Mona M MakhamrehHuda B Al-Kouatly
Jun 12, 2020·Journal of Clinical Medicine·Przemyslaw KosinskiAleksandra Jezela-Stanek
Oct 22, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Andrea M QuinnSeth I Berger
Feb 19, 2021·Clinical Case Reports·Antonio Miguel Poyatos-AndújarFrancisa Sonia Molina García
Mar 10, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Huda B Al-KouatlySeth I Berger
Apr 17, 2021·Neuroscience Letters·Marjan HuizingUNKNOWN FSASD Consortium

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