Bohra Vijay, Nair Velu
Department of Internal Medicine, Armed Forces Medical College, Pune, Maharashtra, India.
Indian J Endocrinol Metab. 2011 Jul;15(3):182-6. doi: 10.4103/2230-8210.83402.
Gaucher's disease (GD) is the most common amongst the various disorders classified under the lysosomal storage disorders. GD is a model for applications of molecular medicine to clinical delineation, diagnosis, and treatment. The multiorgan and varied presentation of the disease makes it a challenge to diagnose GD early. The advent of enzyme replacement therapy in the early 1990s changed the management, and survival, of patients with GD. In addition to this, development of substrate reduction, pharmacological chaperone, and gene therapies has broadened the horizon for this rare disease. However, in resource-poor countries like ours, optimal management is still a distant dream.
戈谢病（GD）是溶酶体贮积症分类下的各种疾病中最常见的一种。GD是分子医学应用于临床描述、诊断和治疗的一个范例。该疾病的多器官表现和多样症状使其早期诊断具有挑战性。20世纪90年代初酶替代疗法的出现改变了GD患者的治疗和生存状况。除此之外，底物减少疗法、药理伴侣疗法和基因疗法的发展拓宽了这种罕见病的治疗前景。然而，在我们这样资源匮乏的国家，最佳治疗仍然是一个遥不可及的梦想。
