Chediak-Higashi综合征(附2例报告)

Report of Two Cases of Chediak-Higashi Syndrome

目的探讨Chediak-Higashi综合征的临床特点和诊断方法,提高对该病的认识。方法分析2例Chediak-Higashi综合征的临床资料并复习相关文献。结果2例病例得到准确诊断,本病为常染色体隐性遗传性疾病。结论进行产前基因诊断是预防本病的关键。

Objective To discuss the clinical characteristics and diagnosis of Chediak - Higashi syndrome, and to improve the recognition of the disease. Methods The clinical data of two cases of Chediak - Higashi syndrome were analyzed and the pertinent literature was reviewed. Result Two cases were definitely diagnosed, and this disease was autosomal recessive inherited disease. Conclusion The key point to prevent the disease is to carry out the antepartum diagnosis.