https://scholars.lib.ntu.edu.tw/handle/123456789/611147
Title: | Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3 | Authors: | NI-CHUNG LEE YIN-HSIU CHIEN Wang, Chung Hsing Wong, Siew Lee STEVEN SHINN-FORNG PENG Tsai, Fuu Jen WUH-LIANG HWU |
Keywords: | Eliglustat | Gaucher disease | Substrate reduction therapy | Issue Date: | 1-Jun-2022 | Journal Volume: | 31 | Source: | Molecular Genetics and Metabolism Reports | Abstract: | Patients with Gaucher disease type 3 (GD3), especially those with GBA p.L444P homozygous mutation, often suffer from complications including lymphadenopathy even under regular enzyme replacement therapy (ERT). In order to improve their outcome, we administrated eliglustat, a substrate reduction therapy (SRT), in combination with ERT to four patients, age ranged 9–18 years, for two years. The results revealed that patients' plasma glucosylsphingosine (lyso-GL1) level and chitotriosidase activity both decreased after adding eliglustat. In three patients who completed follow-up MRI scanning, sizes of lymph nodes all decreased. No severe adverse events were attributed to eliglustat. Therefore, our data suggest that a combined SRT and ERT treatment may improve the ERT-resistant symptoms in patients with GD3. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/611147 | ISSN: | 22144269 | DOI: | 10.1016/j.ymgmr.2022.100867 |
Appears in Collections: | 醫學院附設醫院 (臺大醫院) |
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