GAUCHER DISEASE - NEW MOLECULAR APPROACHES TO DIAGNOSIS AND TREATMENT
GAUCHER DISEASE - NEW MOLECULAR APPROACHES TO DIAGNOSIS AND TREATMENT
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DOI：
10.1126/science.1589760
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发表时间：
1992-05-08
期刊：
影响因子：
56.9
通讯作者：
BEUTLER, E
中科院分区：
文献类型：
--
作者：
BEUTLER, E
戈谢病的特征是葡萄糖脑苷脂的积累，导致肝脏和脾脏肿大以及骨骼病变。它是由葡萄糖脑苷脂酶的遗传缺陷引起的。存在许多突变，但其中四个占德系犹太人突变的97%以上，戈谢病是最常见的人群。虽然突变和疾病表现之间有很强的关系，但由于每个基因型内疾病的严重程度存在相当大的差异，因此遗传咨询变得困难。静脉输注葡萄糖脑苷脂酶是一种有效的治疗方法，但酶替代疗法的可用性受到其高成本的限制。骨髓移植在治疗这种疾病方面也是有效的，但由于涉及的风险很少进行。在未来，基因转移可能成为治疗的选择。
Gaucher disease is characterized by the accumulation at glucocerebroside, leading to enlargement of the liver and spleen and lesions in the bones. It is caused by an inherited deficiency of the enzyme glucocerebrosidase. Many mutations exist, but four of these account for over 97% of the mutations in Ashkenazi Jews, the population group in which Gaucher disease is the most common. Although there is a strong relation between the mutations and disease manifestations, genetic counseling is made difficult by the fact that within each genotype there is considerable variability in the severity of the disease. Intravenous infusion of glucocerebrosidase is an effective treatment, but the availability of enzyme replacement therapy is limited by its high cost. Marrow transplantation is also effective in treating the disease, but is rarely performed because of the risks involved. In the future gene transfer may become the treatment of choice.