亨特综合征的临床与遗传学研究。2. 轻型与重型的差异。
A clinical and genetic study of Hunter's syndrome. 2. Differences between the mild and severe forms.
作者信息
Young I D, Harper P S, Newcombe R G, Archer I M
出版信息
J Med Genet. 1982 Dec;19(6):408-11. doi: 10.1136/jmg.19.6.408.
Abstract
Comparison of the disease course in patients with the severe and mild forms of Hunter's syndrome indicates that the severely affected boys show a higher incidence of behavioural disorder, diarrhoea, convulsions, and terminal cachexia. It is proposed that all of these differences may be attributed to the underlying neurodegeneration which characterises the severe form of the disease. A means of predicting the ultimate disease outcome in a young isolated case is presented.
摘要
对重度和轻度亨特综合征患者病程的比较表明，受影响严重的男孩出现行为障碍、腹泻、惊厥和终末期恶病质的发生率更高。有人提出，所有这些差异可能归因于该疾病严重形式所特有的潜在神经退行性变。本文介绍了一种预测年轻孤立病例最终疾病结局的方法。
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