Enzyme replacement therapy with alglucosidase alfa in a late-onset Pompe disease patient during pregnancy

摘要

Clinical data regarding the use of enzyme replacement therapy (ERT) during pregnancy in late-onset Pompe disease (LOPD) is still scarce. We present the clinical case of a 32-year-old female patient with LOPD, on enzyme replacement therapy (ERT) since the age of 29 years old, who had treatment interrupted after her second week of pregnancy with subsequent deterioration of her muscle condition. ERT was resumed by week 20 with clear clinical improvement. The pregnancy and delivery was otherwise uneventful and there were no problems during the neonatal period. After one-year follow-up the mother was clinically stable and the child had a normal development. A review of the existing literature shows that maintaining ERT during pregnancy may be of crucial importance for LOPD patients without adding obvious risks to the foetus. However, more data needs to be collected to address safety for the foetus and exclude potential teratogenicity.