Ehlen C, Heintges T, Niederau C
Medizinische Klinik und Poliklinik, Abteilung für Gastroenterologie Heinrich-Heine-Universität, Düsseldorf.
Med Klin (Munich). 1995 May 15;90(5):284-90.
Since 3 years there is an effective enzyme replacement therapy for patients with Gaucher's disease which is the most prevalent sphingolipid storage disease. Also the diagnostic procedures have recently been improved. This study reports about the results of longterm enzyme replacement therapy and the diagnostic workup in 18 patients with Gaucher's disease.
Since June 1991, 18 patients with moderate to severe degree of Gaucher's disease were treated by administration of modified human glucocerebrosidase on regular bases in the University Hospital Düsseldorf. According to the severity of the disease, glucocerebrosidase infusion was performed every 2 weeks. The dosage was individually chosen according to the severity of the disease.
Within 3 to 4 months all patients showed an improvement of laboratory findings, of hepatosplenomegaly and of their general well-being.
The advances in our understanding of this disease need to be publicized because an early diagnosis and timely enzyme replacement guarantees almost all patients with the adult type of Gaucher's disease to live a normal life without complaints and complications.
3年来，对于戈谢病患者已有有效的酶替代疗法，戈谢病是最常见的鞘脂贮积病。近期诊断程序也有所改进。本研究报告了18例戈谢病患者长期酶替代疗法的结果及诊断检查情况。
自1991年6月起，杜塞尔多夫大学医院对18例中重度戈谢病患者定期给予改良人葡糖脑苷脂酶进行治疗。根据疾病严重程度，每2周进行一次葡糖脑苷脂酶输注。剂量根据疾病严重程度个体化选择。
3至4个月内，所有患者的实验室检查结果、肝脾肿大及总体健康状况均有改善。
我们对这种疾病认识的进展需要进行宣传，因为早期诊断和及时的酶替代疗法几乎能保证所有成年型戈谢病患者过上没有不适和并发症的正常生活。
