Electroretinography and fundus oculi findings in Hurler's disease and allied mucopolysaccharidoses.
Electroretinography and fundus oculi findings in Hurler's disease and allied mucopolysaccharidoses.
复制标题
Hurler 病和相关粘多糖病的视网膜电图和眼底检查结果。
DOI：
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发表时间：
1965
期刊：
影响因子：
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通讯作者：
V. McKusick
中科院分区：
文献类型：
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作者：
J. Gills;R. Hobson;W. Hanley;V. McKusick
近年来，Hurler综合征（滴水嘴症）不是一个单一的实体，而是一系列遗传决定的生化疾病之一。1957年Dorfman和Lorencz以及1958年Meyer发现Hurler病患者尿中粘多糖（MPS）增加，这是对该病的理解和鉴别的一个重大进展。Meyer认为，粘多糖、硫酸软骨素B和硫酸肝素的异常升高是由产生这些物质的成纤维细胞分化中的遗传异常引起的。有另一种理论认为，由于蛋白质的异常，粘多糖与蛋白质的错误结合。9对尿MPS进行详细的定性和定量检查对于准确的诊断和分类是必要的。18根据临床、生物化学和遗传学的理由，McKusick 22将粘多糖疾病分为以下几类：MPS 1.常染色体隐性遗传Hurler综合征
Introduction It has become apparent in recent years that Hurler's syndrome (gargoylism) is not a single entity but is one of a spectrum of genetically-determined biochemical disorders. A major advance in understanding and differentiating the condition occurred with the discovery by Dorfman and Lorencz8in 1957, and Meyer21in 1958, of increased mucopolysaccharides (MPS's) in the urine of patients with Hurler's disease. Meyer suggested that abnormally elevated amounts of mucopolysaccharides, chondroitin sulfate B, and heparitin sulfate, result from a genetic abnormality in the differentiation of the fibroblasts which produce these substances. There is an alternate theory of faulty binding of mucopolysaccharides to protein because of an abnormality in the latter.9 Detailed qualitative and quantitative examination of the urinary MPS's is necessary for accurate diagnosis and classification.18On clinical, biochemical, and genetic grounds, McKusick22has grouped the mucopolysaccharide diseases as follows: MPS 1.—The autosomal-recessive Hurler's syndrome