核素显像在戈谢病诊治中的应用价值

Application of radionuclide imaging in the diagnosis and management of Gaucher′s disease

戈谢病(GD)是溶酶体贮积病,与葡萄糖脑苷脂酶活性下降导致其底物葡萄糖脑苷脂在巨噬细胞溶酶体内贮积有关。该病罕见且缺乏特异性的临床表现,易误诊和漏诊,导致延误最佳治疗时机。早期诊断、临床评估、定期监测对GD酶替代治疗具有重要的临床意义。近年来研究显示,核素显像在GD诊治中发挥着越来越重要的作用。该文介绍了核素显像在GD诊治中的应用价值。

Gaucher′s disease(GD)is a lysosomal storage disease,and the etiology of GD is the decreased activity of glucocerebrosidase,which leads to the accumulation of glucocerebroside in the lysosomes of macrophages.Because GD is rare and lacks specific clinical manifestations,it is easy to be misdiagnosed,which delays the best time for treatment.Early diagnosis,clinical evaluation,and regular monitoring of the disease have important clinical significance for enzyme replacement therapy in patients with GD.Recent studies have found that radionuclide imaging is playing an increasingly important role in the diagnosis and treatment of GD.This article introduces the application of radionuclide imaging in the diagnosis and management of GD.