Abelleyra Lastoria Diego Agustín, Grewal Simranjeet, Hughes Derralynn
Institute for Medical and Biomedical Education St. George's, University of London London UK.
Lysosomal Storage Disorders Unit Royal Free London NHS Foundation Trust University College London London UK.
EJHaem. 2024 Jan 30;5(1):206-221. doi: 10.1002/jha2.852. eCollection 2024 Feb.
Gaucher disease (GD) is a heterogeneous condition requiring tailored treatment approaches. The aim of this systematic review was to synthesise and evaluate current evidence pertaining to the use of Ambroxol for the treatment of GD. Published and unpublished literature databases, conference proceedings and the reference lists of included studies were searched until 23 November 2023. A narrative synthesis was performed. Database search and risk of bias assessment were performed independently by two reviewers. Twenty-one studies (182 patients) were included. The evidence was low in quality. Variable responses to Ambroxol were observed. Response rates were 36% and 55% in two studies reporting on type 1 GD. One study found a 22% response rate in type 2 GD, whereas another study found 29% of patients with type 3 GD reported neurological improvements. No severe adverse events were reported in the literature, with mild and reversible side effects reported. Varying response rates are to be expected (29%-100%) when treating neurological manifestations. Varying degrees of symptomatic improvement for the treatment of GD were noted in the literature. Multidisciplinary team input and clinical judgement are advised to provide personalized treatment of this complex and multi-faceted condition.
戈谢病（GD）是一种需要采取个性化治疗方法的异质性疾病。本系统评价的目的是综合和评估有关氨溴索用于治疗GD的现有证据。检索已发表和未发表的文献数据库、会议论文集以及纳入研究的参考文献列表，直至2023年11月23日。进行了叙述性综合分析。数据库检索和偏倚风险评估由两名 reviewers 独立进行。纳入了21项研究（182例患者）。证据质量较低。观察到对氨溴索的反应各异。在两项关于1型GD的研究中，反应率分别为36%和55%。一项研究发现2型GD的反应率为22%，而另一项研究发现3型GD患者中有29%报告有神经功能改善。文献中未报告严重不良事件，仅报告了轻微且可逆的副作用。治疗神经表现时，预期反应率会有所不同（29%-100%）。文献中指出，治疗GD时症状改善程度各异。建议多学科团队参与并结合临床判断，为这种复杂且多方面的疾病提供个性化治疗。
