Steensberg J, Nielsen K G, Brandt N J
H:S Rigshospitalet, Juliane Marie Centret, afsnit for klinisk genetik 4062.
Ugeskr Laeger. 1998 Jun 22;160(26):3900-3.
Gaucher's disease is the most frequent inherited lysosomal storage disorder, displaying hepato-splenomegaly, thrombocytopenia, anaemia, and bone pain as characteristic features. Substitution with the modified enzyme alglucerase has revolutionized the treatment and prognosis of Gaucher's disease. Treatment in general and current trends in enzyme substitution therapy in particular are discussed.
戈谢病是最常见的遗传性溶酶体贮积症，其特征表现为肝脾肿大、血小板减少、贫血和骨痛。用改良酶阿糖苷酶替代治疗彻底改变了戈谢病的治疗方法和预后。本文讨论了戈谢病的一般治疗方法，特别是酶替代疗法的当前趋势。
