DHR123流式细胞分析在慢性肉芽肿病诊断中的应用  

Application of DHR123 flow cytometry in diagnosis of chronic granulomatous disease

作　　者：佟月娟[1] 贺建新[2] 徐保平[2] 刘秀云[2] 赵顺英[2] 申昆玲[2] 江载芳[2] 

机构地区：[1]首都医科大学附属北京儿童医院儿研所,北京100045 [2]首都医科大学附属北京儿童医院呼吸科

出　　处：《山西医科大学学报》2015年第5期467-471,共5页Journal of Shanxi Medical University

摘　　要：目的探讨二氢罗丹明流式细胞分析(DHR123 FC)方法在慢性肉芽肿病(CGD)诊断中的应用。方法选取在我院就诊、经临床和基因突变分析确诊为CGD的4例患儿。采用DHR123 FC分析血液中中性粒细胞群分布,评估DHR123 FC诊断的敏感性。结果病例1和2 CYBB基因突变分析分别为925G>A/E309K,731G>A/C244Y,均为已报道突变,临床表型为变异型;DHR123 FC显示中性粒细胞轻度移位,刺激指数约为10(正常为>40)。病例3为X-CGD女性携带者发病;CYBB基因突变分析为杂合的1212 del G;DHR123 FC显示有2.3%中性粒细胞正常移位,刺激指数为258.67;97.7%中性粒细胞无移位,刺激指数约为1。病例4为经典CGD患者,中性粒细胞无移位,刺激指数为1;干细胞移植后DHR123FC显示80.02%中性粒细胞正常移位,刺激指数为127.8。结论变异型CGD中性粒细胞轻度移位,刺激指数明显低于正常。DHR123 FC分析敏感性高,可用于变异型CGD及X-CGD女性携带者发病的诊断及干细胞移植后植入情况的监测。Objective To investigate the value of DHR123 flow cytometry in diagnosis of chronic granulomatous disease. Methods Four cases of CGD diagnosed by clinical findings and gene mutation analysis were enrolled in the study. DHR123 flow cytometry was used to analyze peripheral blood neutrophil distribution. The sensitivity of this method was evaluated. Results ①CYBB gene mutations 925G 〉 A/E309K and 731G 〉 A/C244Y were found in case 1 and case 2 ,respectively, which were known as variant CGD. DHR123 FC showed mild shift of neutrophil population with stimulation index（SI） -- 10（SI 〉40 in normal control）. ②Case 3 was an X-CGD female cartier patient. CYBB gene mutation was heterozygous 1212delG. DHR123 FC showed that 2.3% of the neutrophils had normal shift with SI = 258.67 ,and 97.7% of neutrophils had no shift with SI = 1. ③Case 4 was classical CGD. DHR123 flow cytometry showed that neutrophils had no shift with SI = 1 before hematopoietic stem cell transplantation（HSCT）. After HSCT, 80.02% of neutrophits had normal shift with SI = 127.8. Conclusion Variant CGD patients show mild neutrophil shift and significantly low SI. DHR123 flow cytometry is a sensi- tive method and can be used to diagnose the variant CGD, screen female X-CGD carriers and monitor the engraftment after HSCT.

关 键 词：DHR123流式细胞学 变异型慢性肉芽肿病 携带者 干细胞移植 

分 类 号：R593[医药卫生—内科学]