Patel A L, Shaikh W A, Khobragade A K, Soni H G, Joshi A S, Sahasrabudhe G S, Chole P V
Department of General Medicine, Grant Medical College, Mumbai, India.
J Assoc Physicians India. 2009 May;57:410-1.
Gaucher's disease is the most common group of lysosomal storage disorders caused by defective activity of an enzyme beta-glucosidase leading to accumulation of glucocerebroside in cells of macrophage lineage. Accumulation of glucosylceramide in tissues leads to multisystem organ involvement viz. liver, spleen, bone marrow, lungs and central nervous system. Serum beta=glucosidase levels <15% of mean normal activity confirms the diagnosis, enzyme replacement being the only definitive treatment. We report a clinical case of a 21 year male with Gaucher's disease. To the best of our knowledge only six cases of Gaucher's disease have been reported from India so far.
戈谢病是最常见的一组溶酶体贮积症，由β-葡萄糖苷酶活性缺陷引起，导致葡糖脑苷脂在巨噬细胞系细胞中蓄积。组织中葡糖神经酰胺的蓄积导致多系统器官受累，即肝脏、脾脏、骨髓、肺和中枢神经系统。血清β-葡萄糖苷酶水平低于正常平均活性的15%可确诊，酶替代疗法是唯一的确定性治疗方法。我们报告一例21岁男性戈谢病临床病例。据我们所知，迄今为止印度仅报告了6例戈谢病病例。
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