3 Gaucher's disease: clinical features and natural history

MA, MSc, MD, FRCP Timothy M. Cox (Professor of Medicine, Honorary Consultant Physician), BSc, MB, PhD, MRCP J. Paul Schofield (Lister Research Fellow, Honorary Consultant Physician)
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引用次数: 212

Abstract

Gaucher's disease is an inherited disorder characterized by pathological storage of glycolipid in mononuclear phagocytes: it is a multi-system disease associated with striking variation in its clinical manifestations, severity and course. Although molecular analysis of the glucocerbrosidase gene in patients with Gaucher's disease has permitted broad correlations between genotype and phenotype to be made, with few exceptions genetic variation at this locus does not allow confident prediction of clinical phenotype or prognosis. Partial deficiency of glucocerebrosidase is associated principally with parenchymal disease of the liver, spleen, bone marrow and, in severe cases, the lung, in non-neuronopathic, Type 1, Gaucher's disease: here storage material in macrophages originates from turnover of exogenous glycolipids. Severe deficiency of glucocerebrosidase caused by disabling mutations is additionally associated with neurological manifestations that in part reflect a failure to degrade endogenous neuronal glycosphingolipids, the so-called neuronopathic, Type 2 and Type 3 disease categories. Here we describe the clinical features, complications and natural history principally of Type 1 Gaucher's disease: emphasis is placed on emerging pulmonary, osseous and other manifestations of obscure pathogenesis that respond poorly to enzyme-replacement therapy.

3戈谢病的临床特征及自然病史
戈谢病是一种以糖脂在单核吞噬细胞中病理性储存为特征的遗传性疾病,是一种多系统疾病,其临床表现、严重程度和病程差异显著。尽管对戈谢病患者葡萄糖糖苷酶基因的分子分析已经允许在基因型和表型之间建立广泛的相关性,但除了少数例外,该位点的遗传变异不能可靠地预测临床表型或预后。葡萄糖脑苷酶的部分缺乏主要与肝、脾、骨髓的实质疾病有关,在非神经性的1型戈谢病中,在严重的情况下,与肺有关:巨噬细胞中的储存物质来源于外源性糖脂的周转。致残突变引起的糖脑苷酶严重缺乏还与神经系统症状有关,这些症状部分反映了内源性神经元鞘糖脂降解失败,即所谓的神经性、2型和3型疾病类别。在这里,我们主要描述1型戈谢病的临床特征、并发症和自然史:重点放在新出现的肺部、骨骼和其他病因不明的表现,这些表现对酶替代治疗反应不佳。
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