周期性中性粒细胞减少症1例并文献复习

Cyclic neutropenia:A report of 1 case and literature review

目的加强对周期性中性粒细胞减少症(cyclic neutropenia,CN)的认识,提高对该病的诊治水平。方法分析2015-10-08中国医科大学附属第一医院儿科收治的1例反复发热伴口腔溃疡5年未确诊的CN患儿的临床资料,总结患儿的临床表现和检查、治疗方案,并进行文献复习。结果患儿5年病史,每隔20 d即有感染,发病时有发热、口腔溃疡和细菌感染及血中性粒细胞计数减低,骨髓穿刺提示粒细胞系统增生减低,发病间歇期血中性粒细胞计数正常,ELANE基因为杂合突变,符合CN。结论对于临床表现和血中性粒细胞计数有规律地呈周期性变化的患者,应进行骨髓穿刺及ELANE基因检测,对反复周期性中性粒细胞减少的病例,ELANE基因突变的检测有助于CN的确诊。

Objective To strengthen the understanding of cyclic neutropenia （CN） and improve the level of diagnosis and treatment. Methods One case of recurrent fever with oral ulcer in a CN child who remained nndiagnosed for five years was admitted to Department of Pediatrics, the First Affiliated Hospital of China Medical University on October 8th, 2015. The clinical manifestations of CN, examination in children and treatment options were summarized, and literatures were reviewed. Results The patient had a history of recurrent regular infections at a 20-day intervals for five years. During the onset, the child had painful mouth ulcer, fever, bacterial infections and neutropenia. Bone marrow puncture showed granulocyte proliferation decreased, and blood neutrophil counts were normal during the interval of two attacks ; ELANE heterozygous gene mutation was in line with CN. Conclusion If clinical features and neutrophil numbers show a periodic change, bone marrow puncture should be done and ELANE gene should be detected. In cases of repeated low concentration of neutrophils in blood, the detection of ELANE gene mutation is useful for diagnosis of CN.