法布里病孕妇的酶替代疗法：病例系列
Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case Series.
作者信息
Fernández Pehuén, Fernández Shunko Oscar, Gonzalez Jacqueline Griselda Mariela, Fernández Tabaré, Fernández Cinthia Claudia, Fernández Segundo Pastor
机构信息
CIDTEF, Centro de Investigación, Diagnóstico y Tratamiento de Enfermedad de Fabry (Research, Diagnosis and Treatment Center for Fabry Disease), San Fernando del Valle de Catamarca, Argentina.
出版信息
JIMD Rep. 2019;45:77-81. doi: 10.1007/8904_2018_141. Epub 2018 Nov 8.
Abstract
Fabry disease is a rare inherited lysosomal storage disorder caused by the deficiency of the enzyme alpha-galactosidase A. There is uncertainty regarding the safety of enzyme replacement therapy during pregnancy. We describe the course and outcome of seven pregnancies in six patients with Fabry disease who continued or reinitiated enzyme replacement therapy during pregnancy. No adverse events, in both mothers and children, were observed.
摘要
法布里病是一种罕见的遗传性溶酶体贮积症，由α-半乳糖苷酶A缺乏引起。孕期进行酶替代疗法的安全性尚不确定。我们描述了6例法布里病患者的7次妊娠过程及结局，这些患者在孕期继续或重新开始了酶替代疗法。未观察到母亲和孩子出现不良事件。
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