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[切-东综合征]

[Chédiak-Higashi syndrome].

作者信息

van Eerdenburg F J, Bouw J

出版信息

Tijdschr Diergeneeskd. 1985 May 15;110(10):391-9.

PMID:4012747
Abstract

As the Chédiak-Higashi Syndrome (CHS) is rare in various species of mammal and occurs almost only in very young to young animals, it is virtually unknown and may therefore pass unnoticed. For this reason, the symptoms as reported for example in man, cattle, cats and mink are brought together and compared in the present paper. The most important symptoms are dilution of the pigment of skin and fur and increased susceptibility to infection. Enlarged granules are found in leukocytes and various other types of cell. The basis for this defect should be sought at the level of the microtubules. Moreover this report is concerned with genetic features of this type of defect. The criteria to be applied in the diagnosis of the CHS are discussed.

摘要

由于切-东综合征(CHS)在各种哺乳动物物种中都很罕见,几乎只发生在幼年到青年动物身上,所以实际上并不为人所知,因此可能未被注意到。出于这个原因,本文将例如在人类、牛、猫和水貂中报道的症状汇总并进行比较。最重要的症状是皮肤和皮毛色素变淡以及对感染的易感性增加。在白细胞和各种其他类型的细胞中发现了增大的颗粒。这种缺陷的基础应该在微管水平上寻找。此外,本报告还涉及这种类型缺陷的遗传特征。讨论了用于诊断CHS的标准。

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