Chediak-Higashi综合征诊断和加速期治疗分析

Diagnosis of Chediak-Higashi syndrome and treatment of the accelerated phase Chediak-Higashi syndrome

目的探讨Chediak-Higashi综合征(CHS)的临床特征和加速期治疗方法。方法对2例CHS患儿的临床资料进行总结分析。结果 2例患儿为女性幼儿,均有皮肤、毛发和眼色素减退,骨髓有核细胞中见巨大包涵体,且过氧化物酶染色阳性,临床诊断为CHS。2例患儿均有发热、淋巴结肿大、肝脾肿大以及血细胞2系以上降低等,诊断CHS(加速期)。经大剂量甲基强的松龙联合丙种球蛋白冲击治疗后加速期临床症状缓解。结论色素减退,骨髓有核细胞中过氧化物酶染色阳性的巨大包涵体是CHS的主要临床特征。CHS(加速期)表现为发热、淋巴结肿大、肝脾肿大以及血细胞2系以上降低等。确诊后大剂量甲基强的松龙联合丙种球蛋白冲击治疗可有效缓解加速期症状。

[ Objective ] Chediak-Higashi syndrome is a rare autosomal recessive disorder. This study aimed at ex- ploring the clinical characteristics and treatment of the disease to help improve our understanding of it. [ Methods ] The clinical data of two patients with Chediak-Higashi syndrome admitted to our hospital between March 2010 and March 2011 were analyzed and the clinical diagnoses were confirmed by light microscopy examination and bone marrow examination. [ Results ] The main clinical manifestation are generalized skin hypopigmentation at birth, hairs with a unique silver sheen,and peroxidase positive giant inclusions in polymorphonuclear neutrophils. Fever, lym- phadenopathy, hepatosplenomegaly, anemia, and neutropenia are accelerated phase clinical manifestations. Infection is thought to hasten development of the accelerated phase. Remission is achieved after combination treatment with high dose methylprednisolone and gamma globulin. [ Conclusions ] The main clinical features of CHS include pig- ment dilution of skin and hair at birth, and peroxidase positive giant inclusions in polymorphonuclear neutrophils. Combined treatment with high dose methylprednisolone and gamma globulin can induce remission of the accelerated phase.