Klein M, Kaminsky P, Duc M
Service de médecine J, CHU de Nancy, hôpitaux de Brabois, Vandoeuvre-lès-Nancy, France.
Rev Med Interne. 1995;16(6):447-56. doi: 10.1016/0248-8663(96)80738-7.
Gaucher's disease is an autosomal recessive inherited disorder, characterized by genetic deficiency of lysosomial glucocerebrosidase. Its substrate (glycosylceramide) subsequently accumulates in cells of monocyte/macrophage origin, resulting in enlargement of the spleen and liver, skeletal lesions, and, in the most severe phenotypes, in neurological disorders. Thirty-six mutations have been at present documented in the gene encoding for the glucocerebrosidase, but four of them (N370S, L444P, 84GG and IVS2+1) are really frequent, particularly in ashkenaze population. Gaucher's disease is diagnosed by the presence of Gaucher cells, especially in bone marrow aspirate, and by assessing the glucocerebrosidase activity. The prognosis has been considerably improved by enzyme replacement therapy.
戈谢病是一种常染色体隐性遗传性疾病，其特征为溶酶体葡萄糖脑苷脂酶基因缺陷。其底物（糖基神经酰胺）随后在单核细胞/巨噬细胞来源的细胞中蓄积，导致脾脏和肝脏肿大、骨骼病变，在最严重的表型中还会引发神经障碍。目前已在编码葡萄糖脑苷脂酶的基因中记录到36种突变，但其中4种（N370S、L444P、84GG和IVS2+1）非常常见，尤其是在阿什肯纳兹人群中。戈谢病通过存在戈谢细胞来诊断，特别是在骨髓穿刺物中，并通过评估葡萄糖脑苷脂酶活性来诊断。酶替代疗法已使预后得到显著改善。
