Beta-glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis.
We describe a case of beta-glucuronidase deficiency presenting as a non-immune hydrops fetalis diagnosed at 26 weeks of gestation. The deficiency was disclosed on cultured amniotic fluid cells and in fetal plasma and was confirmed post-abortion. In a second pregnancy, a normal beta-glucuronidase activity was found in extracts of chorionic villi obtained at 10 weeks of gestation. The pregnancy is continuing uneventfully. We conclude that it is of great importance to verify the presence of metabolic disease whenever the major causes of hydrops fetalis have been excluded.
Lissens
W
W
Department of Medical Genetics, University Hospital, the Vrije Universiteit Brussels, Belgium.
Dedobbeleer
G
G
Foulon
W
W
De Catte
L
L
Charels
K
K
Goossens
A
A
Liebaers
I
I
D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000201:enzymology; D005260:Female; D005312:Fetal Blood / Q000737:chemistry; D005966:Glucuronidase / Q000172:deficiency*; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000209:etiology*; D007668:Kidney / Q000000981:diagnostic imaging; D011247:Pregnancy; D013154:Spleen / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal; D001619:beta-N-Acetylhexosaminidases / Q000032:analysis
D005966:Glucuronidase; D001619:beta-N-Acetylhexosaminidases