新生儿慢性肉芽肿病合并真菌感染1例报道及文献复习

李斌; 杜琨; 赵玫; 赵培丽

doi:10.16766/j.cnki.issn.1674-4152.002305

新生儿慢性肉芽肿病合并真菌感染1例报道及文献复习

doi: 10.16766/j.cnki.issn.1674-4152.002305

昆明医科大学附属儿童医院新生儿科，云南昆明 650034

详细信息

通讯作者:
杜琨，E-mail：dukun@etyy.cn

中图分类号: R725.6 R519
计量
- 文章访问数: 173
- HTML全文浏览量: 66
- PDF下载量: 24
- 被引次数: 0
出版历程
- 收稿日期: 2020-03-17
- 网络出版日期: 2022-03-03

摘要

- 慢性肉芽肿病 /
- CYBB基因 /
- 新生儿

HTML全文

图 1 患儿及其父母CYBB基因测序图

注：先证者家庭行sanger测序验证，患儿C.388c > T(p.R130X)无义突变；患儿母亲该基因位点为杂合突变；患儿父亲未携带该突变。箭头所示为突变位点。

下载: 全尺寸图片幻灯片

表 1 新生儿CGD患儿血常规检查结果

检查时间	WBC计数(×10⁹/L)	中性粒细胞计数(×10⁹/L)	PLT计数(×10⁹/L)	C反应蛋白(mg/L)
病程第1天	15.28	9.80	633	15.37
病程第5天	15.50	10.10	393	35.61
病程第10天	7.63	5.09	288	97.55
病程第14天	1.78	1.11	87	151.75
病程第16天	12.82	9.61	16	148.12

下载: 导出CSV

参考文献(17)

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