IPEX综合征并发肠源性脓毒症1例并文献复习

doi:10.3969/j.issn.1004-583X.2021.05.013

临床荟萃 ›› 2021, Vol. 36 ›› Issue (5): 453-457.doi: 10.3969/j.issn.1004-583X.2021.05.013

IPEX综合征并发肠源性脓毒症1例并文献复习

Eamran Hossain, 田亚, 陈源, 张少丹, 张会丰()

河北医科大学第二医院儿科, 河北石家庄 050000

收稿日期:2021-03-02 出版日期:2021-05-20 发布日期:2021-06-09
通讯作者: 张会丰 E-mail:2378122844@qq.com

IPEX syndrome concurrent with gut-origin sepsis: A child patient report and literature review

Eamran Hossain, Tian Ya, Chen Yuan, Zhang Shaodan, Zhang Huifeng()

Department of Pediatrics, the Second Hospital of Hebei Medical University, Shijiazhuang 050000, China

Received:2021-03-02 Online:2021-05-20 Published:2021-06-09
Contact: Zhang Huifeng E-mail:2378122844@qq.com

摘要/Abstract

摘要：

分析住院治疗的1例IPEX综合征(immune dysregulation polyendocrinopathy enteropathy X-linked syndrome)并发肠源性脓毒症患儿的临床表现、辅助检查及诊疗经过程,并进行相关文献复习。要提高对IPEX综合征并发肠源性脓毒症的认知及重视程度,对于患儿尤其是婴幼儿的特殊疾病表现,如早发顽固性腹泻、多发内分泌病、自身免疫现象,全身炎症反应综合征及生长落后,可考虑进行全身对症治疗结合免疫系统疾病基因检测诊断,选择基因治疗或同种异体造血干细胞移植等有效正规治疗,帮助其获得长期生存概率。

关键词: IPEX综合征, 肠源性脓毒症, 肺炎克雷伯菌, 基因检测

Abstract:

In the study, a child patient with immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome concurrent with gut-origin sepsis who was admitted to our hospital was selected, we analyzed in detail the clinical manifestations, auxiliary examinations, diagnosis and treatment of his and reviewed related literature. This result shows that it is necessary to increase the awareness and attention of IPEX syndrome concurrent with gut-origin sepsis, and for children, especially infants, with special disease manifestations, such as early refractory diarrhea, multiple endocrine diseases, autoimmune phenomena, systemic inflammatory response syndrome as well as growth retardation. We may conside genetic testing for systemic immune system diseases while symptomatic treatment; effective regular treatment options such as gene therapy or allogeneic hematopoietic stem cell transplantation are helpful in achieving long-term survival.

Key words: IPEX syndrome, gut-origin sepsis, klebsiella pneumoniae, genetic testing

中图分类号:

R722.1

Eamran Hossain, 田亚, 陈源, 张少丹, 张会丰. IPEX综合征并发肠源性脓毒症1例并文献复习[J]. 临床荟萃, 2021, 36(5): 453-457.

Eamran Hossain, Tian Ya, Chen Yuan, Zhang Shaodan, Zhang Huifeng. IPEX syndrome concurrent with gut-origin sepsis: A child patient report and literature review[J]. Clinical Focus, 2021, 36(5): 453-457.

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链接本文: https://huicui.hebmu.edu.cn/CN/10.3969/j.issn.1004-583X.2021.05.013

https://huicui.hebmu.edu.cn/CN/Y2021/V36/I5/453

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参考文献 17

[1]	Notarangelo LD, Fischer A, Geha RS, et al. Primary immunod- eficiencies: 2009 update[J]. J Allergy Clin Immunol, 2009, 124(6):1161-1178. doi: 10.1016/j.jaci.2009.10.013 pmid: 20004777
[2]	Geha] RS, Notarangelo LD, Casanova JL, et al. Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee[J]. J Allergy Clin Immunol, 2007, 120(4):776-794. doi: 10.1016/j.jaci.2007.08.053 URL
[3]	Hartono S, Ippolitim R, Mastroianni M, et al. Gastrointestinal disorders associated with primary immunodeficiency diseases[J]. Clin Rev Allergy Immunol, 2019, 57(2):145-165. doi: 10.1007/s12016-018-8689-9 URL
[4]	Gambineri E, Perroni L, Passerini L, et al. Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity[J]. J Allergy Clin Immunol, 2008, 122(6):1105-1112. DOI: 10.1016/j.jaci.2008.09.027. doi: 10.1016/j.jaci.2008.09.027 pmid: 18951619
[5]	董文芳, 曹清, 王剑, 等. X连锁多内分泌腺病肠病伴免疫失调综合征二例并文献复习[J]. 中国小儿急救医学, 2018, 25(10):753-756.
[6]	刘辉, 冯永文, 姚咏明. 脓毒症治疗新进展[J]. 中华重症医学电子杂志(网络版), 2018, 4(4):299-303.
[7]	Wang T, Derhovanessian A, De Cruz S, et al. Subsequent infections in survivors of sepsis: Epidemiology and outcomes.[J]. J Intensive Care Med, 2014, 29(2) : 87-95. doi: 10.1177/0885066612467162 URL
[8]	Weiss SL, Fitzgerald JC, Pappachan J, et al. Global epidemiology of pediatric severe sepsis: The sepsis prevalence, outcomes, and therapies study[J]. Am J Respir Crit Care Med, 2015, 191(10):1147-1157. doi: 10.1164/rccm.201412-2323OC URL
[9]	王莹. 儿童脓毒性休克诊治专家共识——我们需要关注哪些变化[J]. 中国小儿急救医学, 2016, 23(3):149-151.
[10]	刘娟, 钱素云. 小儿脓毒症和严重脓毒症发病情况单中心调查[J]. 临床儿科杂志, 2010, 28(1):26-29.
[11]	王嵩, 王义, 郭纪元. 儿科重症监护病房脓毒症患者现状调查分析[J]. 陕西医学杂志, 2009, 38(1):110-111.
[12]	Sender R, Fuchs S, Milo R. Are we really vastly outnumberd? Revisiting the Ratio of bacterial to host cells in humans[J]. Cell, 2016, 164(3):337-400. doi: 10.1016/j.cell.2016.01.013 pmid: 26824647
[13]	Grotz M, Regel G, Bastian L, et al. The intestine as the central organ in the development of multipl eorgan failure after sever etrauma pathophysiology and therapeutic approaches[J]. Zentralbl Chir, 1998, 123(3):205-217. pmid: 9586178
[14]	Wilmore DW, Smith RJ, Dwyer ST, et al. The gut: Acentral organ after surgical stress[J]. Surgery, 1988, 104(5):917-923.
[15]	徐红云, 刘春林, 陈弟, 等. 2010-2016年耐碳青霉烯类肺炎克雷伯菌及大肠埃希菌临床分布及其耐药特征[J]. 中国感染控制杂志, 2018, 17(8):688-692.
[16]	邓林强, 陈益国, 陈会, 等. 某院不同病区间由肺炎克雷伯菌引起血流感染的相关分析[J]. 中国抗生素杂志, 2018, 43(5):630-634
[17]	NAvon Venezia S, Kondratyeva K, et al. Klebsiella pneumoniae a major worldwide source and shuttle for sntibiotic resistance[J]. FEMS Microbiol Rev, 2017, 41(3):252-275. doi: 10.1093/femsre/fux013 URL

IPEX综合征并发肠源性脓毒症1例并文献复习

IPEX syndrome concurrent with gut-origin sepsis: A child patient report and literature review

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