x连锁无球蛋白血症患者的ibd样病变:文献回顾和临床病例

Q4 Medicine

Pediatriya - Zhurnal im G.N. Speranskogo Pub Date : 2023-04-21 DOI:10.24110/0031-403x-2023-102-2-147-152

E. K. Mgdsyan, D. Yukhacheva, V. Burlakov, O. Shvets, E. Viktorova, S. Mann, E. Raikina, N. Shchigoleva, Y. Rodina, A. Shcherbina

{"title":"x连锁无球蛋白血症患者的ibd样病变:文献回顾和临床病例","authors":"E. K. Mgdsyan, D. Yukhacheva, V. Burlakov, O. Shvets, E. Viktorova, S. Mann, E. Raikina, N. Shchigoleva, Y. Rodina, A. Shcherbina","doi":"10.24110/0031-403x-2023-102-2-147-152","DOIUrl":null,"url":null,"abstract":"X-linked agammaglobulinemia (XLA) is a primary immunodeficiency that refers to defects in the humoral link and is characterized by severe recurrent infectious episodes as well as low concentration of serum immunoglobulins up to their complete absence. BTK (Bruton tyrosine kinase), a protein coding gene is responsible for this disease, whose mutations lead to impaired maturation of B-lymphocytes followed by a defect in antibody production. The survival rate of patients with early diagnosis and timely replacement therapy with intravenous (IVIG) and subcutaneous (SCIG) immunoglobulins is quite high. Though patients in this group are predisposed to immune complications such as IBD-like lesions of the gastrointestinal tract (GIT) in addition to recurrent infectious episodes. The differentiation of such complications if often of diagnostic and therapeutic difficulties. This group of patients is being actively studied at the moment aimed to the search for therapeutic options. The Article represents a bibliographical review and clinical case of the development of IBD-like lesions of the GIT in a patient with XLA.","PeriodicalId":39654,"journal":{"name":"Pediatriya - Zhurnal im G.N. Speranskogo","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"IBD-LIKE LESIONS IN PATIENTS WITH X-LINKED AGAMMAGLOBULINEMIA: BIBLIOGRAPHICAL REVIEW AND CLINICAL CASE\",\"authors\":\"E. K. Mgdsyan, D. Yukhacheva, V. Burlakov, O. Shvets, E. Viktorova, S. Mann, E. Raikina, N. Shchigoleva, Y. Rodina, A. Shcherbina\",\"doi\":\"10.24110/0031-403x-2023-102-2-147-152\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"X-linked agammaglobulinemia (XLA) is a primary immunodeficiency that refers to defects in the humoral link and is characterized by severe recurrent infectious episodes as well as low concentration of serum immunoglobulins up to their complete absence. BTK (Bruton tyrosine kinase), a protein coding gene is responsible for this disease, whose mutations lead to impaired maturation of B-lymphocytes followed by a defect in antibody production. The survival rate of patients with early diagnosis and timely replacement therapy with intravenous (IVIG) and subcutaneous (SCIG) immunoglobulins is quite high. Though patients in this group are predisposed to immune complications such as IBD-like lesions of the gastrointestinal tract (GIT) in addition to recurrent infectious episodes. The differentiation of such complications if often of diagnostic and therapeutic difficulties. This group of patients is being actively studied at the moment aimed to the search for therapeutic options. The Article represents a bibliographical review and clinical case of the development of IBD-like lesions of the GIT in a patient with XLA.\",\"PeriodicalId\":39654,\"journal\":{\"name\":\"Pediatriya - Zhurnal im G.N. Speranskogo\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-04-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatriya - Zhurnal im G.N. Speranskogo\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.24110/0031-403x-2023-102-2-147-152\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatriya - Zhurnal im G.N. Speranskogo","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.24110/0031-403x-2023-102-2-147-152","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}

引用次数: 0

摘要

x连锁无球蛋白血症(XLA)是一种原发性免疫缺陷，指的是体液连接缺陷，其特征是严重的复发性感染发作以及血清免疫球蛋白浓度低直至完全缺失。BTK(布鲁顿酪氨酸激酶)是导致这种疾病的一种蛋白质编码基因，其突变导致b淋巴细胞成熟受损，随后抗体产生缺陷。早期诊断并及时用静脉注射(IVIG)和皮下注射(SCIG)免疫球蛋白替代治疗的患者生存率相当高。尽管这一组患者除了复发性感染发作外，还容易出现免疫并发症，如ibd样胃肠道病变(GIT)。这类并发症的鉴别往往是诊断和治疗上的困难。目前正在积极研究这组患者，目的是寻找治疗方案。本文对XLA患者胃肠道ibd样病变发展的文献回顾和临床病例进行了综述。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

IBD-LIKE LESIONS IN PATIENTS WITH X-LINKED AGAMMAGLOBULINEMIA: BIBLIOGRAPHICAL REVIEW AND CLINICAL CASE

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency that refers to defects in the humoral link and is characterized by severe recurrent infectious episodes as well as low concentration of serum immunoglobulins up to their complete absence. BTK (Bruton tyrosine kinase), a protein coding gene is responsible for this disease, whose mutations lead to impaired maturation of B-lymphocytes followed by a defect in antibody production. The survival rate of patients with early diagnosis and timely replacement therapy with intravenous (IVIG) and subcutaneous (SCIG) immunoglobulins is quite high. Though patients in this group are predisposed to immune complications such as IBD-like lesions of the gastrointestinal tract (GIT) in addition to recurrent infectious episodes. The differentiation of such complications if often of diagnostic and therapeutic difficulties. This group of patients is being actively studied at the moment aimed to the search for therapeutic options. The Article represents a bibliographical review and clinical case of the development of IBD-like lesions of the GIT in a patient with XLA.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Pediatriya - Zhurnal im G.N. Speranskogo Medicine-Pediatrics, Perinatology and Child Health

CiteScore

0.60

自引率

0.00%

发文量

150

期刊介绍： Journal “Pediatria” named after G.N. Speransky (the official short names of the Journal are “Journal «Pediatria»,” “Pediatria,” and “«Pediatria,» the Journal”) is the oldest Soviet-and-Russian (in the Russian Federation, the CIS and former Soviet Union) scientific and practical medical periodical assigned for pediatricians that is published continuously since May, 1922, and distributed worldwide. Our mission statement specifies that we aim to the ‘raising the level of skills and education of pediatricians, organizers of children’s health protection services, medicine scientists, lecturers and students of medical institutes for higher education, universities and colleges worldwide with an emphasis on Russian-speaking audience and specific, topical problems of children’s healthcare in Russia, the CIS, Baltic States and former Soviet Union Countries and their determination with the use of the World’s best practices in pediatrics.’ As part of this objective, the Editorial of the Journal «Pediatria» named after G.N. Speransky itself adopts a neutral position on issues treated within the Journal. The Journal serves to further academic discussions of topics, irrespective of their nature - whether religious, racial-, gender-based, environmental, ethical, political or other potentially or topically contentious subjects. The Journal is registered with the ISSN, - the international identifier for serials and other continuing resources, in the electronic and print world: ISSN 0031-403X (Print), and ISSN 1990-2182 (Online). The Journal was founded by the Academician, Dr. Georgiy Nestorovich SPERANSKY, in May, 1922. Now (since 1973) the Journal bears his honorary name.