Analysis of diagnostic characteristics of chronic granulomatous disease in children caused by a hemizygous mutation in CYBB gene

doi:10.3877/cma.j.issn.2095-655X.2023.03.011

Abstract

Abstract:

Objective

To explore the clinical diagnostic features of chronic granulomatous disease(CGD) caused by a hemizygous mutation in the CYBB gene.

Methods

The clinical data of a child with CGD admitted to the First Hospital of Jilin University on April 30, 2021, were analyzed retrospectively, and the clinical diagnostic characteristics were summarized based on literature.

Results

The 11-year-old male patient was admitted with " intermittent fever for 22 days and double ankle pain for 5 days". The patient had a history of repeated respiratory tract infections for more than 10 years after birth, along with multiple history of infections such as skin furuncles, tuberculosis infection, liver abscess, and other infections, all of which improved after anti-infection treatment. Finally, the results of the genetic analysis proved that CGD was caused by a hemizygous mutation in the CYBB gene.

Conclusion

Clinical physicians should be watchful for CGD in children who have had recurrent respiratory tract infections since infancy and should actively discover the etiology to improve the children′s prognosis as soon as possible.

Key words: Granulomatous disease, chronic, Infection, Child, CYBB gene, Diagnosis

Yaozheng Ling, Man Gao, Yanyue Xu, Zhen Ma, Bingyue Sun, Zhichao Pei. Analysis of diagnostic characteristics of chronic granulomatous disease in children caused by a hemizygous mutation in CYBB gene[J]. Chinese Journal of Diagnostics(Electronic Edition), 2023, 11(03): 212-216.

/ / Recommend

Add to citation manager EndNote|Ris|BibTeX

URL: https://zhzdxdzzz.cma-cmc.com.cn/EN/10.3877/cma.j.issn.2095-655X.2023.03.011

https://zhzdxdzzz.cma-cmc.com.cn/EN/Y2023/V11/I03/212

Figures/Tables 3

References 21

[1]	de Albuquerque J，de Oliveira Junior EB，Zurro NB，et al.A C126R de novo mutation in CYBB leads to X-linked chronic granulomatous disease with recurrent pneumonia and BCGitis[J]．Front Pediatr，2018(6)：248.DOI：10.3389/fped.2018.00248.
[2]	禹定乐，王文建，郑跃杰，等．儿童慢性肉芽肿病研究进展[J]．中华实用儿科临床杂志，2020，35(11)：877-880.DOI：10.3760/cma.j.cn101070-20190301-00147.
[3]	Gao LW，Yin QQ，Tong YJ，et al.Clinical and genetic characteristics of Chinese pediatric patients with chronic granulomatous disease[J]．Pediatr Allergy Immunol，2019，30(3)：378-386.DOI：10.1111/pai.13033.
[4]	Mahdaviani SA，Mohajerani SA，Rezaei N，et al.Pulmonary manifestations of chronic granulomatous disease[J]．Expert Rev Clin Immunol，2013，9(2)：153-160.DOI：10.1586/eci.12.98.
[5]	Yao Q，Zhou QH，Shen QL，et al.Imaging findings of pulmonary manifestations of chronic granulomatous disease in a large single center from Shanghai，China (1999-2018)[J]．Sci Rep，2020，10(1)：19349.DOI：10.1038/s41598-020-76408-4.
[6]	Rawat A，Vignesh P，Sudhakar M，et al.Clinical，immunological，and molecular profile of chronic granulomatous disease：a multi-centric study of 236 patients from India[J]．Front Immunol，2021(12)：625320.DOI：10.3389/fimmu.2021.625320.
[7]	赵顺英，赵梦姣，刘辉．儿童慢性肉芽肿的诊断和治疗[J]．中华儿科杂志，2016，54(4)：303-306.DOI：10.3760/cma.j.issn.0578-1310.2016.04.018.
[8]	赵晶，彭芸，贺建新．儿童慢性肉芽肿病胸部CT表现[J]．医学影像学杂志，2012，22(3)：359-363.DOI：10.3969/j.issn.1006-9011.2012.03.010.
[9]	侯志彬，李欣，王春祥．儿童慢性肉芽肿病的MSCT表现及特征[J]．放射学实践，2014(12)：1464-1467.DOI：10.13609/j.cnki.1000-0313.2014.12.029.
[10]	李雨，钟礼立，谢良伊，等．慢性肉芽肿病合并肋骨骨质破坏1例报告[J]．中国实用儿科杂志，2022，37(5)：391-395.DOI：10.19538/j.ek2022050615.
[11]	周冰燕，王海军．儿童慢性肉芽肿病5例临床特点及基因突变分析[J]．临床研究，2020，28(2)：3-5.
[12]	何颖瑶，刘斌．高IgE综合征[J]．临床耳鼻咽喉头颈外科杂志，2017，31(11)：892-896.DOI：10.13201/j.issn.1001-1781.2017.11.019.
[13]	Robinson RT. IL12Rβ1: the cytokine receptor that we used to know[J]．Cytokine，2015，71(2)：348-359.DOI：10.1016/j.cyto.2014.11.018.
[14]	贺建新．卡介苗与儿童原发性免疫缺陷病[J]．中国现代医学杂志，2022，32(15)：1-7.DOI：10.3969/j.issn.1005-8982.2022.15.001.
[15]	刘辉，李惠民，刘金荣，等．慢性肉芽肿病临床及早期诊断分析[J]．中华儿科杂志，2021，59(9)：777-781.DOI：10.3760/cma.j.cn112140-20210426-00348.
[16]	程琪，尚云晓．儿童反复呼吸道感染及其诊治策略[J]．国际儿科学杂志，2020，47(11)：749-754.DOI：10.3760/cma.j.issn.1673-4408.2020.11.001.
[17]	Winkelstein JA，Marino MC，Johnston RB Jr，et al.Chronic granulomatous disease.Report on a national registry of 368 patients[J]．Medicine (Baltimore)，2000，79(3)：155-169.DOI：10.1097/00005792-200005000-00003.
[18]	Johnston RB Jr，Barton LL.Perianal abscesses[J]．Pediatrics，2008，121(2)：447.DOI：10.1542/peds.2007-3276.
[19]	Gennery AR.Progress in treating chronic granulomatous disease[J]．Br J Haematol，2021，192(2)：251-264.DOI：10.1111/bjh.16939.
[20]	梁伟玲，李汉广，刘陈菁，等．慢性肉芽肿病基因型与感染病原体的相关性[J]．中华实用儿科临床杂志，2021，36(5)：364-368.DOI：10.3760/cma.j.cn101070-20191012-00970.
[21]	Morillo-Gutierrez B，Beier R，Rao K，et al.Treosulfan-based conditioning for allogeneic HSCT in children with chronic granulomatous disease：a multicenter experience[J]．Blood，2016，128(3)：440-448.DOI：10.1182/blood-2016-03-704015.

Please choose a citation manager

Content to export