Chediak-Higashi综合征诊断与治疗新进展

Advances in diagnosis and management of Chediak-Higashi syndrome

Chediak-Higashi综合征(CHS)是一种常染色体隐性遗传病,主要表现为眼皮肤白化症状、严重的免疫缺陷、出血倾向及外周神经病变等。在中性粒细胞内发现特征性异常的粗大溶酶体颗粒为其确诊依据。该病早期病情稳定,以后多在十年内迅速发展,出现弥散性淋巴细胞和组织细胞浸润,病情恶化,患者常因严重感染或出血而死亡。少数患者病情稳定,可存活至成年。异基因骨髓移植可以改善免疫缺陷及血液系统缺陷,延缓病情进展,但不能抑制神经系统病变的发展;应用抗生素不能有效地控制感染。目前尚无有效治疗方法,故应积极进行有效的产前诊断。

Chediak-Higashi syndrome （CHS） is a rare autosomal recessive disorder. It is characterized by partial albinism, severe immunologic deficiency, bleeding tendency, and peripheral neurologic defects. The hallmark of CHS is abnormal giant lysosome granules in neutrophils. Early stage of the disease is static, and usually it develops into the ＂accelerate phase＂ in ten years, which is characterized by diffuse lymphohistiocytic infiltration, rapid clinical deterioration, and finally patients die of severe infections or bleeding. Only a few patients remain in a static status and survive into adulthood. Allogeneic bone marrow transplantation can completely reverse the immunologic and hematologic abnormalities, and delay acceleration; however, it does not prevent the evolution of the disease. Antibiotic is inefficient in controlling the infection. Since there is still no treatment for Chediak-Higashi syndrome, prenatal diagnosis should be actively pursued.