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阿糖苷酶。其在戈谢病治疗应用中的综述。

Alglucerase. A review of its therapeutic use in Gaucher's disease.

作者信息

Whittington R, Goa K L

机构信息

Adis International Limited, Auckland, New Zealand.

出版信息

Drugs. 1992 Jul;44(1):72-93. doi: 10.2165/00003495-199244010-00007.

Abstract

Alglucerase is a mannose-terminated form of human placental glucocerebrosidase, developed to treat patients with Gaucher's disease. Functional glucocerebrosidase is deficient in Gaucher's disease, an autosomal recessive lipid storage disorder that affects people of all ethnic backgrounds, but has a higher incidence among East European Jews (Ashkenazim). Gaucher's disease manifests with hepatosplenomegaly, bleeding disorders and bone disease, with the more rare subtypes (types 2 and 3) featuring neurological dysfunction. Prior to the development of enzyme replacement therapy, treatment for Gaucher's disease was mainly symptomatic relief. Primary treatment with glucocerebrosidase focuses on removal of the lipid metabolite that causes the pathology. Because of the rarity of Gaucher's disease clinical trials are small, and much of the data investigating alglucerase therapy have been obtained from studies of patients with type 1 disease, the prevalent subtype. Nonetheless, after intravenous administration of alglucerase, improvements are evident within 6 months of therapy. Patients have increased haemoglobin levels and platelet counts, and decreased incidences of epistaxis and bruising. Spleen and liver size are reduced, and skeletal parameters improve. Children gain height and most patients receiving alglucerase therapy are able to resume work and daily activities. Alglucerase is well tolerated, with few mild adverse reactions reported. Although the pharmacokinetic and pharmacodynamic information for alglucerase is limited, its unequivocal efficacy justifies enzyme replacement therapy with this compound as first-line treatment for patients with Gaucher's disease, for whom treatment options are limited.

摘要

阿糖苷酶是一种甘露糖末端形式的人胎盘葡萄糖脑苷脂酶,用于治疗戈谢病患者。功能性葡萄糖脑苷脂酶在戈谢病中缺乏,戈谢病是一种常染色体隐性脂质贮积病,影响所有种族背景的人群,但在东欧犹太人(阿什肯纳兹人)中发病率更高。戈谢病表现为肝脾肿大、出血性疾病和骨骼疾病,较罕见的亚型(2型和3型)具有神经功能障碍。在酶替代疗法发展之前,戈谢病的治疗主要是症状缓解。用葡萄糖脑苷脂酶进行的主要治疗集中在去除导致病理状况的脂质代谢物。由于戈谢病罕见,临床试验规模较小,许多研究阿糖苷酶治疗的数据来自对1型疾病(流行亚型)患者的研究。尽管如此,静脉注射阿糖苷酶后,治疗6个月内疗效明显。患者血红蛋白水平和血小板计数增加,鼻出血和瘀伤发生率降低。脾脏和肝脏大小减小,骨骼参数改善。儿童身高增加,大多数接受阿糖苷酶治疗的患者能够恢复工作和日常活动。阿糖苷酶耐受性良好,报告的轻度不良反应很少。虽然阿糖苷酶的药代动力学和药效学信息有限,但其明确的疗效证明用这种化合物进行酶替代疗法作为戈谢病患者的一线治疗是合理的,因为这些患者的治疗选择有限。

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