Uneventful pregnancy outcome after enzyme replacement therapy with agalsidase beta in a heterozygous female with Fabry disease: A case report

被引：10
|
作者：
Germain, Dominique P. [1 ,2 ]
Bruneval, Patrick [4 ]
Tran, Thi-Chien [2 ]
Balouet, Pierre [3 ]
Richalet, Bernard [5 ]
Benistan, Karelle [1 ]
机构：
[1] Hop Raymond Poincare, AP HP, Div Med Genet, F-92380 Garches, France
[2] Univ Versailles St Quentin Yvelines UVSQ, F-78035 Versailles, France
[3] Ctr Hosp Mem France Etats Unis, Div Obstet, F-50000 St Lo, France
[4] HEGP AP HP, Dept Pathol, F-75015 Paris, France
[5] Ctr Hosp Mem France Etats Unis, Div Nephrol, F-50000 St Lo, France
来源：
EUROPEAN JOURNAL OF MEDICAL GENETICS | 2010年 / 53卷 / 02期
关键词：
Fabry disease; Lysosomal storage disorders; Pregnancy; Enzyme replacement therapy; Agalsidase beta; MANIFESTATIONS; NEPHROPATHY; INVOLVEMENT; MANAGEMENT; DIAGNOSIS; ALPHA;
D O I：
10.1016/j.ejmg.2009.12.004
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
No reproductive studies have been performed with enzyme replacement therapy (ERT) for Fabry disease (FD, OMIM 301500), a lysosomal storage disorder. Therefore, use during pregnancy is theoretically contraindicated. We report the first case of agalsidase beta treatment throughout pregnancy. High-range proteinuria remained stable and the patient gave birth to a healthy boy after an uncomplicated pregnancy. The decision to administer ERT during pregnancy should be made on an individual basis, considering the FD status and possible risks. (C) 2009 Elsevier Masson SAS. All rights reserved.
引用
收藏
页码：111 / 112
页数：2
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