GAUCHER DISEASE TYPE 1 IN THE SKELETON: REVIEW OF LATIN AMERICA

ABSTRACT Gaucher disease (GD) is the most prevalent lysosomal storage disease, and is characterized by the accumulation of glucosylceramide and glucosylsphingosine in tissues throughout the body. With the advent of enzyme replacement therapy, the prognosis for patients with GD has dramatically improved. Still, the skeletal manifestations associated with GD respond slowly to enzyme replacement therapy and are the most significant contributor of disease related patient morbidity. This review of bone manifestations in GD presents the most recent theories on its pathophysiology, and gives a systematic review of studies with Latin American patients that report the frequency of bone manifestations and the effects of enzyme replacement therapy on their treatment. We conclude by emphasizing the importance of early identification and proper management at appropriate dosage levels of enzyme replacement therapy to reduce the morbidity caused by GD.

摘要：戈谢病（Gaucher disease）是最常见的溶酶体贮积症（lysosomal storage disease），以全身组织中葡糖脑苷脂（glucosylceramide）与葡糖鞘氨醇（glucosylsphingosine）的蓄积为核心特征。随着酶替代疗法（enzyme replacement therapy）的问世，戈谢病患者的预后已得到显著改善。但戈谢病相关的骨骼表现对酶替代疗法的响应较为迟缓，且仍是引发疾病相关患者发病负担的最主要因素。本综述围绕戈谢病的骨骼表现展开，介绍了其病理生理学领域的最新理论，并系统梳理了以拉美患者为对象的相关研究，这些研究报道了骨骼表现的患病率以及酶替代疗法对其治疗的作用效果。最后，本文着重强调：早期识别并采用适宜剂量的酶替代疗法进行规范管理，对于减轻戈谢病带来的患者发病负担具有重要意义。