常见可变免疫缺陷综合征1例临床分析

E. Sobko, I. Demko, I. Soloveva, A. Kraposhina, N. Gordeeva, D. Anikin, N. Pronkina, O. Ischenko
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摘要

原发性免疫缺陷是一种罕见的与免疫系统衰竭相关的先天性病理,表现为免疫系统功能紊乱。这些缺陷导致患者对各种传染源的易感性增加,以及自身免疫性、恶性和其他疾病的发展。原发性免疫缺陷被归类为一种罕见疾病,以前与儿童期预后不良和高死亡率有关。迄今为止,高效治疗方法的出现改变了这些疾病的病程和预后。不同专业的临床医生在日常实践中越来越多地遇到这种病理学,包括成年患者。在这方面,成人原发性免疫缺陷的早期诊断变得重要,这与选择最佳治疗、预防严重的内部器官损伤、确定患者的管理策略以及确定遗传性疾病和向患者家属提供信息的必要性有关。诊断的延迟验证可能会导致患者残疾,并发展成不可逆转的、往往是致命的并发症。这篇文章介绍了我们自己的一个新诊断的临床情况:常见的可变免疫缺陷障碍(CVID),成人最常见的原发性免疫缺陷。这些患者成年后会出现常见的可变免疫缺陷疾病的症状,但高质量的病史收集将使您能够追踪患者的症状,即使是从儿童早期开始。该疾病的发病和临床诊断之间存在几年的共同差距,因为错误诊断往往是由于类似于其他更常见疾病的非特异性临床症状造成的。CVID患者的预后取决于几个因素:感染频率、肺部结构紊乱、自身免疫性疾病的发生和感染预防的成功。因此,原发性免疫缺陷的多种临床形式,医生对这种病理缺乏认识,普通医疗网络中免疫检查的复杂性,导致CVID长期得不到诊断,患者得不到必要的病因治疗。需要提请各个学科的医生注意这样一个事实,即各种定位的复发性炎症过程可能是由免疫系统的变化引起的,包括先天性、遗传性免疫缺陷。
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Common variable immunodeficiency disorder: a clinical case
Primary immunodeficiency is a rare congenital pathology associated with failure of immune system, manifested by disturbances of its functions. These defects lead to increased susceptibility of patients to various infectious agents, as well as the development of autoimmune, malignant and other diseases. Primary immunodeficiency is classified as a rare disease, which was previously associated with a poor prognosis with a high risk of mortality in childhood. To date, the emergence of highly effective treatment methods has changed the course and prognosis of these diseases. Clinicians of various specialties increasingly meet with this pathology in everyday practice, including adult age cohorts. In this regard, early diagnosis of primary immunodeficiency in adults becomes relevant, being associated with choosing optimal therapy, prevention of severe internal organ damage, determination of management strategy for the patient, as well as the need to identify inherited disorders and provide information to the patient’s family. Delayed verification of the diagnosis may cause disability of the patient and development of irreversible, often fatal complications. This article presents our own clinical case with a newly diagnosed clinical condition: Common variable immunodeficiency disorder (CVID), the most common form of primary immunodeficiency in adults. The symptoms of common variable immunodeficiency disorder appear in these patients in adulthood, but a high-quality collected history of the disease will allow you to trace symptoms in the patients even since early childhood. There is a common gap for several years between the onset of the disease and clinical diagnosis, since erroneous diagnosis is often made due to non-specific clinical symptoms that resemble other, more frequent diseases. The prognosis of patients with CVID depends on several factors: frequency of infections, structural disorders in the lungs, the occurrence of autoimmune diseases and the success of infection prevention. Thus, a variety of clinical forms of primary immunodeficiency, lack of awareness of doctors about this pathology, complexity of immunological examination in the general medical network lead to the fact that CVID is not diagnosed for long terms, and patients do not receive the necessary pathogenetic therapy. There is a need for drawing attention of doctors of various disciplines to the fact that the recurrent inflammatory processes of various localization, which are difficult to respond to adequate traditional therapy, may be caused by changes in the immune system, including congenital, genetically determined immunodeficiency.
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