caa a22 4500 467932794 CHVBK 20180406152948.0 cr unu---uuuuu 170328e20060201xx s 000 0 eng 10.1007/s10545-006-0196-0 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0196-0 Manifestations of Fabry disease in placental tissue [Elektronische Daten] [A. Vedder, A. Strijland, M. Weerman, S. Florquin, J. Aerts, C. Hollak] Summary: Fabry disease is an X-linked lysosomal storage disorder caused by deficiency of the lysosomal enzyme α-galactosidase A. Manifestations of the disease in placental tissue have been reported only twice. We report for the first time on the biochemical, histological and genetic features of two cases: placenta A derived from a mother heterozygous for Fabry disease who gave birth to a hemizygous son, and placenta B obtained from a healthy mother who carried a heterozygous daughter. Biopsies of placentae A, B and of four healthy controls were taken directly after birth. Assessment of α-galactosidase A (α-Gal) activity was performed both in fetal leukocytes (derived from umbilical cord blood) and in the biopsy specimens. The tissue was further examined by electron microscopy, immunohistochemistry and biochemical analysis for the presence of storage material (ceramide trihexoside (CTH)). In placenta A, characteristic zebra bodies reflecting accumulated storage material were seen in all biopsies evaluated. CTH values were markedly elevated as compared to the controls and α-Gal activity in both fetal leukocytes and placental tissue was very low. Placenta B showed no storage material at all. CTH values were within the control range. α-Gal activity ranged from intermediate to near normal; enzyme activity in fetal leukocytes was significantly decreased. As placental tissue is mainly derived from fetal cells, we may conclude that, in a boy suffering from Fabry disease, extensive storage of CTH is already present at birth. As complications develop only around the age of 10 years, it may be not the CTH itself but secondary processes that cause cellular and organ damage. SSIEM and Springer, 2006 Vedder A. Department of Internal Medicine/Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands aut Strijland A. Department of Biochemistry, Academic Medical Center, Amsterdam, The Netherlands aut Weerman M. Department of Pathology, Academic Medical Center, Amsterdam, The Netherlands aut Florquin S. Department of Pathology, Academic Medical Center, Amsterdam, The Netherlands aut Aerts J. Department of Biochemistry, Academic Medical Center, Amsterdam, The Netherlands aut Hollak C. Department of Internal Medicine/Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 106-111 0141-8955 29:1<106 2006 29 10545 https://doi.org/10.1007/s10545-006-0196-0 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0196-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Vedder A. Department of Internal Medicine/Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Strijland A. Department of Biochemistry, Academic Medical Center, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Weerman M. Department of Pathology, Academic Medical Center, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Florquin S. Department of Pathology, Academic Medical Center, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Aerts J. Department of Biochemistry, Academic Medical Center, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Hollak C. Department of Internal Medicine/Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 106-111 0141-8955 29:1<106 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer