Hydrops foetalis als mogelijk gevolg van erfelijke stofwisselingsziekten

Translated title of the contribution: Hydrops fetalis as a result of inborn errors of metabolism

P. M.W. Janssens*, J. G.N. De Jong, M. L.F. Liebrand-Van Sambeek, R. A. Wevers, A. N.J.A. De Groot, A. J.A. Kooper, M. B. Tan-Sindhunata, E. K. Bijlsma

*Corresponding author for this work

Research output: Contribution to journalReview articleAcademicpeer-review

Abstract

Growing awareness of the manifestation of inborn errors of metabolism in pregnancy has revealed that some 20 of these disorders may cause hydrops fetalis. Most of these inborn errors of metabolism are lysosomal storage diseases. Taken together, these explain a few percent of all cases of hydrops fetalis. As an illustration, we describe three cases of HF we encountered, a case of galactosialidosis, of GM1-gangliosidosis, and of muco-polysaccharidosis type VII. Awareness of lysosomal storage diseases causing hydrops fetalis is useful as it gives an opportunity for risk evaluation, genetic counselling to parents and targeted prenatal diagnostics for ensuing pregnancies.

Translated title of the contributionHydrops fetalis as a result of inborn errors of metabolism
Original languageDutch
Pages (from-to)184-187
Number of pages4
JournalNederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde
Volume29
Issue number4
Publication statusPublished - 1 Jul 2004

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