1例由CXCR4基因突变导致WHIM综合征的诊断及基因突变分析  

The diagnosis and genetic mutation analysis of a case of WHIM syndrome caused by a CXCR4 gene mutation

作　　者：胡晓晶 梁卉 HU Xiaojing;LIANG Hui(Medical Department of Qingdao University,Qingdao,Shandong 266034,China;Department of Hematology and Oncology,Qingdao Women and Children's Hospital,Qingdao,Shandong 266034,China)

机构地区：[1]青岛大学医学部,山东青岛266034 [2]青岛市妇女儿童医院血液肿瘤科,山东青岛266034

出　　处：《中国优生与遗传杂志》2024年第5期1021-1024,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨1例由CXCR4基因突变导致WHIM综合征患儿的临床特点、遗传学特征。方法回顾性分析1例行基因检测确诊WHIM综合征患儿的诊疗过程,并结合相关文献进行复习,总结该病的临床特点及遗传学特征。结果患儿以感染起病,院外多次查血常规示白细胞计数(WBC)、中性粒细胞绝对计数(ANC)偏低,免疫相关指标的检测结果正常,基因检测结果提示CXCR4基因杂合突变(c.1000C>T),诊断为WHIM综合征。结论WHIM综合征国内报道罕见,早期识别困难,容易误诊、漏诊,对于反复中性粒细胞缺乏的患儿,需警惕WHIM综合征,早期行遗传学检测有助于协助诊断。Objective To investigate the clinical and genetic characteristics of a pediatric patient with WHIM syndrome caused by a CXCR4 gene mutation.Methods A retrospective analysis was conducted on the diagnosis and treatment process of a pediatric patient with confirmed WHIM syndrome through genetic testing.Relevant literature was reviewed to summarize the clinical and genetic features of the disease.Results The patient was presented with recurrent infections,with multiple blood routine tests showing low WBC and ANC.Immunological results were normal,and genetic testing revealed a heterozygous mutation in the CXCR4 gene(c.1000C>T),confirming the diagnosis of WHIM syndrome.Conclusion WHIM syndrome is rarely reported in China,and early identification can be challenging,leading to potential misdiagnosis or missed diagnosis.For children with recurrent neutropenia,vigilance for WHIM syndrome is necessary,and early genetic testing can assist in diagnosis.

关 键 词：WHIM综合征 CXCR4 基因检测 中性粒细胞缺乏 

分 类 号：R725.9[医药卫生—儿科]