| 以心脏杂音为首发症状的WHIM综合征1例 |
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| 作者姓名： | 刘娜 郑胡镛 王林娅 郑雪岭 胡海蕊 |
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| 作者单位： | 河北医科大学第二医院儿科;国家儿童医学中心 |
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| 基金项目： | 北京市医院管理局"登峰"人才培养计划(DFL20151101);儿童重大疾病示范性新药临床评价技术平台建设(2017ZX09304029004)。 |
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| 摘 要： | 对2017年12月在首都医科大学附属北京儿童医院就诊的1例以心脏杂音为首发症状的WHIM综合征患儿临床资料进行回顾性分析。患儿，女，5岁，临床表现为心脏杂音，粒细胞减少及反复感染。基因检测结果提示
CXCR4基因杂合突变(c.1000C>T)。心脏超声及心脏CT提示心脏畸形。WHIM综合征非常罕见，以心脏杂音...
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| 关 键 词： | WHIM综合征 CXCR4突变 心脏畸形 粒细胞缺乏 |
Case report of WHIM syndrome with cardiac malformation as the first symptom |
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| Authors: | Liu Na Zheng Huyong Wang Linya Zheng Xueling Hu Hairui |
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| Institution: | (Department of Pediatrics,the Second Hospital of Hebei Medical University,Shijiazhuang 050000,China;Hematology Oncology Center,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China) |
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| Abstract: | The clinical data of a WHIM syndrome child with cardiac malformation as the first symptom in December 2017 in Beijing Children′s Hospital Affiliated to Capital Medical University was retrospectively analyzed.A 5-year-old female patient presented with cardiac malformation,neutropenia and recurrent infection.Heterozygous mutation(c.1000C>T)was detected in CXCR4 gene.Echocardiography and CT exhibited cardiac malformation.WHIM syndrome is very rare,and it was the first case with cardiac malformation as the first manifestation in China,thus hoping to improve clinicians′understanding of this disease. |
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| Keywords: | WHIM syndrome CXCR4 mutation Cardiac malformation Agranulocytosis |
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