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
胡晓晶 1梁卉2
作者信息
- 1. 青岛大学医学部,山东青岛 266034;青岛市妇女儿童医院血液肿瘤科,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
- 折叠
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.
Abstract
Objective To investigate the clinical and genetic characteristics of a pediatric patient with WHIM syn-drome 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Key words
WHIM syndrome/CXCR4/genetic testing/neutrophil deficiency引用本文复制引用
出版年
2024
NETL
NSTL
万方数据