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Investigation of lysosomal storage diseases in nonimmune hydrops fetalis
Author(s) -
Burin Maira G.,
Scholz Ana P.,
Gus Rejane,
Sanseverino Maria Teresa V.,
Fritsh Alessandra,
Magalhães José A.,
Timm Fernanda,
Barrios Patrícia,
Chesky Marisa,
Coelho Janice C.,
Giugliani Roberto
Publication year - 2004
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.967
Subject(s) - mucolipidosis , hydrops fetalis , lysosomal storage disease , consanguinity , etiology , medicine , lysosomal storage disorders , pediatrics , genetic counseling , prenatal diagnosis , pathology , disease , fetus , pregnancy , biology , genetics , enzyme , biochemistry
Objective To investigate lysosomal storage diseases (LSD) in cases of nonimmune hydrops fetalis (NIHF). Methods Thirty‐three cases of NIHF were investigated, 28 in the prenatal period and 5 in hydropic newborns. In addition to a general investigation for NIHF, specific enzymatic analyses for the detection of LSD were performed. Results In our sample, we detected five patients (15%) with LSD, each patient having one of the following diseases: mucolipidosis, Niemann–Pick disease, galactosialidosis, sialidosis and mucopolysaccharidosis type IV A. Conclusion Although LSDs are rare disorders as a group, they should be considered as a possible cause of NIHF, even in the absence of consanguinity or of a previous family history. By excluding the more frequent causes of NIHF, an LSD investigation assists in clarifying the etiology of many hydropic cases, making more appropriate genetic counseling for parents possible. Copyright © 2004 John Wiley & Sons, Ltd.