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

ABSTRACT:

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 8/2

SUBMITTER: Al-Kouatly HB 

PROVIDER: S-EPMC7260084 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature