|کد مقاله||کد نشریه||سال انتشار||مقاله انگلیسی||ترجمه فارسی||نسخه تمام متن|
|5518544||1401071||2017||3 صفحه PDF||سفارش دهید||دانلود کنید|
The availability of three enzyme replacement therapy (ERT) drugs and two substrate reduction therapy (SRT) drugs to treat Gaucher disease provides an opportunity to tailor therapies to a patient's specific clinical concerns. However, there is a gap in the literature regarding individual drug effectiveness in treating particular symptoms and the potential benefits of combination treatment.This report details treatment of a patient with Gaucher disease type 1 whose main clinical concern was profound thrombocytopenia (around 20Â ÃÂ 109/L, normal range: 150-450Â ÃÂ 109/L) with several episodes of bleeding with minimal trauma and bruises. The patient was treated with ERT at doses up to 60Â units/kg weekly, with no improvement in platelet levels for 6Â years. Subsequently, the patient transitioned to SRT and platelet levels increased almost two fold within the first month, and have remained stable at safe levels (30-60Â ÃÂ 109/L) for almost 2.5Â years at the time of publication.This report demonstrates a possible therapeutic benefit of SRT in individual patients who do not meet therapeutic goals in terms of thrombocytopenia after a considerable period on first-line ERT treatment. Oral administration of SRT also improved this patient's quality of life allowing discontinuation of weekly ERT infusions, which better accommodated her demanding career and busy lifestyle.
Journal: Molecular Genetics and Metabolism Reports - Volume 12, September 2017, Pages 82-84