X连锁慢性肉芽肿病12例临床分析

Clinical analysis of X-linked chronic granulomatous disease in 12 patients

目的探讨X连锁慢性肉芽肿病(X-CGD)患儿的临床表现及实验室检查特点。方法总结12例经CYBB基因序列分析诊断为X-CGD患儿的临床资料,检测X-CGD患儿及家系成员中性粒细胞氧化功能。结果 12例患儿均为男性,平均起病年龄4.08个月,平均诊断年龄2岁。12例患儿均有反复肺炎,结核感染7例,淋巴结炎6例,反复腹泻6例,溃疡性口腔炎5例,肛周脓肿3例。均有生长发育延迟。血清IgG、IgA及IgM均升高9例。四唑氮蓝试验(NBT)和中性粒细胞氧化功能均显著下降。6例(50%)患儿死亡。大多患儿影像学检查提示有肺部、肝内肉芽肿形成;3例患儿有家族史。结论 X-CGD起病早,诊断较晚,病死率高;以肺部感染为主要表现,结核感染率高。中性粒细胞呼吸暴发试验有助于X-CGD临床诊断,CYBB基因序列分析可提高诊断准确性。

Objective To explore the clinical and experimental features of 12 cases of X-linked chronic granulomatous disease（X-CGD）.Methods Based on CYBB gene sequencing,12 patients were identified as X-CGD,Their clinical and laboratory data were reviewed.Neutrophil respiratory burst assay detected by flow cytometry-DHR was used to evaluate neutrophil function for patients and their family members.Results The mean onset age of 12 male patients was 4.08 months and,the mean age of clinical diagnosis was 2 years.All patients had recurrent pneumonia.Seven patients had tuberculosis（TB）.Six patients had lymphadenitis.Six patients had recurrent diarrhea.Five patients had ulcerative stomatitis.Three patients had perianal abscesses.All patients had growth retardation and developmental delay.Nine patients had hyper-gammaglobulinemia.Both before and after PMA stimulation neutrophil oxidative index were significantly decreased.Six patients died（50%）.According to imaging diagnosis,granulomas in lung and liver were found in most of patients.Three patients had positive family history.Conclusions The onset age of 12 cases of X-CGD in this group was early,but the clinical diagnosis was very late and mortality was high.The primary clinical manifestation of these patients was infections,especially in lung.Tuberculosis was common.Neutrophil respiratory burst detected by flow cytometry-DHR assay was useful for clinical diagnosis.CYBB gene analysis could improve clinical diagnostic accuracy.