儿童高免疫球蛋白M免疫缺陷综合征合并颅内马尔尼菲篮状菌及活动性肺结核1例

doi:10.19871/j.cnki.xfcrbzz.2024.06.011

新发传染病电子杂志 ›› 2024, Vol. 9 ›› Issue (6): 60-63.doi: 10.19871/j.cnki.xfcrbzz.2024.06.011

儿童高免疫球蛋白M免疫缺陷综合征合并颅内马尔尼菲篮状菌及活动性肺结核1例

赵春艳¹, 宋畅¹, 李强², 黄爱春¹, 韦小英¹, 曾春梅¹, 朱庆东¹

1.南宁市第四人民医院结核科,广西南宁 530023;
2.首都医科大学附属北京胸科医院结核科,北京 101149

收稿日期:2024-09-05 出版日期:2025-01-25 发布日期:2025-01-25
通讯作者: 朱庆东,zhuqingdong2003@163.com
基金资助:
1.广西壮族自治区卫生健康委员会自筹经费科研课题（Z-A20231211）; 2.南宁市科学研究与技术开发计划项目（20233069）

A case of childhood high immunoglobulin M immunodeficiency syndrome combined with Talaromyces marneffei infection and active pulmonary tuberculosis

Zhao Chunyan¹, Song Chang¹, Li Qiang², Huang Aichun¹, Wei Xiaoying¹, Zeng Chunmei¹, Zhu Qingdong¹

1. Department of Tuberculosis, The Fourth People's Hospital of Nanning, Guangxi Nanning 530023, China;
2. Department of Tuberrulosis, Beijing Chest Hospital, Capital Medical University, Beijing 101149, China

Received:2024-09-05 Online:2025-01-25 Published:2025-01-25

摘要/Abstract

摘要： 高免疫球蛋白M（high immunoglobulin M,HIGM）免疫缺陷综合征是一种罕见的由基因突变引起的免疫缺陷病,因机体免疫力低下,容易发生多种机会性感染,且在婴幼儿时期就可以发病。本例报道的HIGM免疫缺陷综合征患儿为2岁8个月的男性,因反复出现肺炎,在外院基因检测诊断为儿童HIGM免疫缺陷综合征,后因合并肺结核、淋巴结结核而到我院诊治。抗结核治疗后患者仍发热,住院过程中出现恶心、呕吐症状,行脑脊液宏基因检测确诊马尔尼菲篮状菌颅内感染。予抗结核、抗真菌及补充免疫球蛋白进行免疫支持治疗后,患儿体温逐渐下降,脑脊液蛋白定量下降至正常。结束抗真菌和抗结核疗程后,患儿每3~4周静脉滴注人免疫球蛋白提供免疫支持并进行临床随访及免疫球蛋白水平监测,目前患儿情况稳定,生长发育正常。

关键词: 高免疫球蛋白M免疫缺陷综合征, 马尔尼菲篮状菌感染, 活动性肺结核, 儿童

Abstract: High immunoglobulin M(HIGM) is a rare immune deficiency disorder caused by genetic mutations. Due to the compromised immune system, individuals are prone to various opportunistic infections and can develop the condition as infants. This case reports a 2-year and 8-month-old male child with HIGM immunodeficiency syndrome, who was diagnosed with the condition at another hospital due to recurrent pneumonia. He was later referred to our hospital for treatment after developing tuberculosis and lymph node tuberculosis. Despite anti-tuberculosis treatment, the patient continued to have fever and developed nausea and vomiting during hospitalization. A cerebrospinal fluid metagenomic analysis identified Talaromyces marneffei. Considering the intracranial infection by Talaromyces marneffei, we administered anti-tuberculosis and antifungal treatment along with immunoglobulin supplementation for immune support. The patient's temperature gradually decreased, and cerebrospinal fluid protein levels normalized. After completing the antifungal and anti-tuberculosis treatments, the patient received intravenous immunoglobulin every 3-4 weeks for immune support, along with clinical follow-up and monitoring of immunoglobulin levels. The patient's condition is currently stable with normal growth and development.

Key words: High immunoglobulin M immunodeficiency syndrome, Talaromyces marneffei infection, Active pulmonary tuberculosis, Child

中图分类号:

R521
R519

赵春艳, 宋畅, 李强, 黄爱春, 韦小英, 曾春梅, 朱庆东. 儿童高免疫球蛋白M免疫缺陷综合征合并颅内马尔尼菲篮状菌及活动性肺结核1例[J]. 新发传染病电子杂志, 2024, 9(6): 60-63.

Zhao Chunyan, Song Chang, Li Qiang, Huang Aichun, Wei Xiaoying, Zeng Chunmei, Zhu Qingdong. A case of childhood high immunoglobulin M immunodeficiency syndrome combined with Talaromyces marneffei infection and active pulmonary tuberculosis[J]. Electronic Journal of Emerging Infectious Diseases, 2024, 9(6): 60-63.

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儿童高免疫球蛋白M免疫缺陷综合征合并颅内马尔尼菲篮状菌及活动性肺结核1例

A case of childhood high immunoglobulin M immunodeficiency syndrome combined with Talaromyces marneffei infection and active pulmonary tuberculosis

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