X染色体连续缺失致慢性肉芽肿病和Mcleod综合征2例报告并文献复习

Chronic granulomatous disease and Mcleod syndrome caused by continuous X chromosome deletion:a report of two cases and literature review

目的探讨X染色体连续缺失所致的与X连锁慢性肉芽肿病(X-CGD)相关的Mcleod综合征的临床特征。方法回顾分析2例经基因分析诊断为Mcleod综合征和X连锁慢性肉芽肿病患儿的临床资料。结果两例男性患儿分别为4岁1个月及1岁9个月,均以迁延性肺内感染入院,既往有反复重症感染史,均有卡介苗相关淋巴结炎,因呼吸爆发缺陷和CYBB基因全外显子缺失明确诊断为X连锁慢性肉芽肿病。患儿同时有运动落后,用MLPA方法分别检测到DMD基因外显子1-44及肌肉特异性启动子区及外显子1-2缺失,诊断为Duchenne型肌营养不良(DMD)。例1外周血涂片有明显棘状红细胞,例2 XK基因突变分析为全外显子缺失,诊断为Mcleod综合征。结论 X染色体连续缺失可导致Mcleod综合征及DMD和X-CGD的组合,使病情复杂化。由于缺乏Kx抗原,反复输普通血会产生相关抗体,出现急骤的输血危象。

Objective To explore the clinical features of chronic granulomatous diseases and Mcleod syndrome caused by continuous X chromosome deletion. Methods The clinical data of two children diagnosed as chronic granulomatous disease and Mcleod syndrome by gene detection were retrospectively analyzed. Results Two males, 4 year 1 month and 1 year 9 month old, were both hospitalized due to persistent pulmonary infections. Both of them had a history of repeated severe infections and BCG vaccine associated lymphadenitis, and were diagnosed as X-linked chronic granulomatous disease for respiratory burst defects and deletion of all CYBB exons. Both of them had retarded motor development, and were diagnosed as DMD for detection of DMD gene exons and muscle specific promoter region and exon 1- 2 deletion by MLPA. One case was found with obvious echinocytes, the other case showed whole exons deletion of XK gene. Both of them were diagnosed as Mcleod syndrome. Conclusion Continuous X chromosome deletion could lead to combination of Mcleod syndrome, DMD, and X-CGD, which may complicate the condition. Due to the lack of Kx antigen, repeated common blood transfusion can produce relative antibody, which lead to severe hemolytic crisis.