| Analysis of placental tissue in Fabry disease with and without enzyme replacement therapy. | |
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MedLine Citation:
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PMID: 20189642 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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There are only a few reports on the histology of placental tissue of pregnancies from mothers with Fabry disease. Fabry disease is a lysosomal disorder caused by alpha-galactosidase A deficiency. Extensive glycosphingolipid (GSL) accumulation in fetal and maternal placenta tissue obtained from a Fabry mother and her affected male newborn has previously been reported. Here we report the evaluation of placenta tissue of two pregnancies in Fabry mothers, one of an unaffected male newborn (placenta A) and one of an affected female newborn (placenta B). The mother of the female affected offspring was treated with recombinant alpha-galactosidase A (enzyme replacement therapy, ERT) during the pregnancy (placenta B). Storage material was only detected in smooth muscle cells of the umbilical cord of placenta B. No accumulation was seen in both placentae. Combing these results with the outcome in two earlier described placentae, a heterogeneous picture emerges. This may be due to differences in disease severity in the mothers or severity of disease in their offspring. In addition, a possible effect of ERT on placental GSL accumulation could also explain lack of GSL storage in placenta B. |
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Authors:
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M G Bouwman; C E M Hollak; M A van den Bergh Weerman; F A Wijburg; G E Linthorst |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-03-01 |
Journal Detail:
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Title: Placenta Volume: 31 ISSN: 1532-3102 ISO Abbreviation: Placenta Publication Date: 2010 Apr |
Date Detail:
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Created Date: 2010-04-12 Completed Date: 2010-06-24 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8006349 Medline TA: Placenta Country: England |
Other Details:
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Languages: eng Pagination: 344-6 Citation Subset: IM |
Copyright Information:
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Copyright 2010 Elsevier Ltd. All rights reserved. |
Affiliation:
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Department of Paediatrics, Emma Children's Hospital, Amsterdam, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Enzyme Replacement Therapy* Fabry Disease / drug therapy*, genetics Female Glycosphingolipids / metabolism* Humans Infant, Newborn Isoenzymes / therapeutic use Male Placenta / enzymology, metabolism* Pregnancy Pregnancy Complications / metabolism* Umbilical Cord / metabolism* alpha-Galactosidase / therapeutic use |
| Chemical | |
Reg. No./Substance:
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0/Glycosphingolipids; 0/Isoenzymes; EC 3.2.1.-/agalsidase beta; EC 3.2.1.22/alpha-Galactosidase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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