Abstract：
:Fabry disease is an X-linked lysosomal storage disease caused by deficiency of α-galactosidase A, resulting in the accumulation of globotriaosylceramide. Many women experience symptoms, but the understanding of placental and fetal aspects of the disease is limited. We report the pregnancy outcome in and placental pathology of a 37-year-old woman with Fabry disease. She became pregnant 2 years after starting enzyme replacement therapy and continued therapy throughout her pregnancy. At 38 weeks' gestation, she gave birth to a healthy boy with the same maternal Fabry mutation. The present case describes more extensive placental involvement by Fabry disease than has been previously reported. Globotriaosylceramide deposits were found within multiple cell types of the placenta, cord, and membranes. Because of the small numbers of cases described in the literature for comparison, it remains unclear if placental tissues are also targeted by enzyme replacement therapy.
journal_name
Hum Patholjournal_title
Human pathologyauthors
Thurberg BL,Politei JMdoi
10.1016/j.humpath.2011.07.020subject
Has Abstractpub_date
2012-04-01 00:00:00pages
610-4issue
4eissn
0046-8177issn
1532-8392pii
S0046-8177(11)00333-9journal_volume
43pub_type
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