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Chédiak-Higashi综合征(CHS)是一种常染色体隐性遗传性疾病,以毛发色素减退、皮肤局部白化、畏光羞明、反复感染、轻度凝血障碍以及进行性神经病变为特征。细胞形态学在该病的早期诊断中起着至关重要的作用。光镜下中性粒细胞胞质内巨大异常颗粒是CHS最具诊断价值的特征性改变。对CHS异常颗粒有了正确认识,则可明显减少漏诊、误诊的发生率。而电镜和基因检查为该病的诊断、治疗和预后判断提供了重要依据,尤其是对产前诊断具有重要临床意义。本文结合近年实践工作经验和文献对CHS的细胞形态学、超微结构及其分子遗传学研究进行阐述,为临床医师和检验工作者提供一些参考。
Chédiak-Higashi Syndrome (CHS) is an autosomal recessive disease characterized by hypochromism, localized skin whitening, photophobia, recurrent infections, mild coagulopathy, and progressive neuropathy. Cell morphology plays a crucial role in the early diagnosis of the disease. Light microscopic neutrophil intracytoplasmic gigantic abnormal granules is the most diagnostic value of CHS characteristic changes. A correct understanding of abnormal particles of CHS can significantly reduce the incidence of missed diagnosis and misdiagnosis. The electron microscopy and genetic tests for the diagnosis, treatment and prognosis of the disease provides an important basis, especially for prenatal diagnosis of important clinical significance. In this paper, the recent practice of work experience and literature on the cell morphology of CHS, ultrastructure and molecular genetics research for clinicians and examiners to provide some reference.