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首页> 外文期刊>Internal medicine journal >Enzyme replacement therapy for Gaucher disease in Australia.
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Enzyme replacement therapy for Gaucher disease in Australia.

机译：在澳大利亚针对高雪氏病的酶替代疗法。

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AIM: To study the effectiveness of a specific national programme of enzyme replacement therapy (ERT) for patients with severe forms of Gaucher disease, a disorder of sphingolipid metabolism resulting from an inherited deficiency of the lysosomal enzyme beta-Glucocerebrosidase. METHODS: Prospective analysis of data submitted at entry and every 6 months on therapy. The responses of haemoglobin (Hb) and platelet (plt) concentrations, liver and spleen volumes were assessed. PATIENTS: Forty-eight patients were treated with ERT for a minimum of 6 months. Forty patients had Type 1 disease and eight had Type 3B. The age range was 1-70 years (median 24 years). Duration of therapy at the time of analysis was 6-114 months. RESULTS: Thirty-six per cent of patients started with a normal Hb increasing to 76% after 6 months. The mean improvement in Hb from baseline to the end of study period was 20 g/L, when the Hb was normal in 85% (41 patients). Thirty per cent of patients had a normal plt count at the start of therapy, with a more gradual increase in the count at 6 monthly intervals of 50, 91, 108 and 142% of starting value. Seventy-five per cent of patients had a normal plt count at the end of study. Spleen volumes reduced by a mean of 56% in 33 evaluable patients, and the liver by 27% in 30 of 38 evaluable patients. Eight patients had an increase in liver volume of 28%. CONCLUSION: Enzyme replacement therapy produced a spectrum of beneficial responses in patients with Gaucher disease, but all had some evidence of reversal of haematological complications and/or reduction in visceromegaly. Future analyses will examine the effect of therapy on bone disease, prepubertal growth and quality of life.
机译：目的：研究特定国家酶替代疗法（ERT）对严重形式的高雪氏病患者的有效性，高雪氏病是由溶酶体酶β-葡萄糖脑苷脂酶的遗传性缺乏引起的鞘脂代谢紊乱。方法：对入院时和每6个月治疗中提交的数据进行前瞻性分析。评估血红蛋白（Hb）和血小板（plt）浓度，肝脏和脾脏体积的反应。患者：48例接受ERT治疗至少6个月。四十名患有1型疾病，八名患有3B型。年龄范围为1-70岁（中位数为24岁）。分析时的治疗时间为6至114个月。结果：36％的患者开始时Hb正常，六个月后增至76％。从基线到研究期结束时Hb的平均改善为20 g / L，而85％的Hb正常（41例患者）。 30％的患者在治疗开始时的plt计数正常，并且在开始6个月的间隔后逐渐增加计数，分别为起始值的50％，91％，108％和142％。在研究结束时，有75％的患者plt计数正常。在33名可评估患者中，脾脏体积平均减少了56％，在38名可评估患者中有30％的肝脏中肝脏减少了27％。 8名患者的肝脏体积增加了28％。结论：酶替代疗法在高雪氏病患者中产生了一系列有益的反应，但都具有逆转血液学并发症和/或减少内脏肥大的证据。未来的分析将检查治疗对骨病，青春期前生长和生活质量的影响。

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