PDF(Pubmed)
Abstract：
Tremendous progress has been made in the recognition of primary immune deficiencies (PIDs) in Bulgaria since in 2005 we have joined the J Project Central-Eastern European collaborative program. Ten years later an Expert Centre (ExpC) for Rare Diseases - Primary Immune Deficiencies at the University Hospital \"Alexandrovska\"- Sofia was established. In May 2017 The National Register of Patients with Rare Diseases also became operational as a database containing clinical and genetic information for Bulgarian patients with PID. The transfer of data and information on Bulgarian PID patients to the European Primary Immunodeficiency Database, managed by the European Society for Primary Immunodeficiency (ESID) has started in 2020. The total number of registered patients now is 191 (100 men and 91 women), with more than half of them being children (106; 55.5%). Regular updating of the information in the register showed that 5.2% of patients are deceased and the majority (94.8%) is a subject to continuous monitoring as it has been reported for other European countries as well. With the establishment of the ExpC, the dynamics in the diagnosis and registration of patients with PID significantly intensified. For a period of 5 years (2016-2021) 101 patients were evaluated and registered in comparison with previous period - before ExpC establishment when only 89 patients were diagnosed. The most common pathology was humoral immune deficiency (85 patients; 44.5%). Ninety-six (50.3%) of the patients underwent genetic testing, and 66. 7% had genetically confirmed diagnosis. Three of the variants have not been reported in population databases. Following genetic investigation confirmation of the initial phenotypic diagnosis was achieved in 82.8% of cases and change in the diagnosis - in 17%. Sixty-two patients were on regular replacement or specific therapy, and the rest received symptomatic and supportive treatment. In summary, we present the first epidemiological report of PIDs in Bulgaria, based on the National PID register. Data on the clinical, phenotypic and genetic characteristics of PID patients provided important information about the nature of primary immunodeficiency diseases in our country.
摘要：
自2005年以来，保加利亚在认识原发性免疫缺陷（PID）方面取得了巨大进展，我们加入了J项目中东欧合作项目。十年后，在索非亚大学医院“Alexandrovska”建立了罕见疾病-原发性免疫缺陷专家中心（ExpC）。2017年5月，国家罕见疾病患者登记册也开始运作，作为包含保加利亚PID患者临床和遗传信息的数据库。将保加利亚PID患者的数据和信息转移到欧洲原发性免疫缺陷数据库，由欧洲原发性免疫缺陷学会（ESID）管理的已于2020年开始。现在登记的病人总数为191人(100名男性和91名女性),其中一半以上是儿童(106；55.5%)。定期更新登记册中的信息显示，有5.2％的患者死亡，大多数（94.8％）受到持续监测，其他欧洲国家也有报道。随着ExpC的建立,PID患者的诊断和注册动态显着增强。在5年（2016-2021年）的时间内，与ExpC建立之前的101例患者进行了评估和注册，当时仅诊断出89例患者。最常见的病理是体液免疫缺陷（85例；44.5％）。96名(50.3%)的病人接受基因检测,667%有基因确诊。其中三种变体尚未在人口数据库中报告。经过遗传调查，在82.8％的病例中实现了初始表型诊断的确认，并在17％的病例中改变了诊断。62名患者接受定期替代或特定治疗，其余患者接受对症和支持治疗。总之,我们介绍了保加利亚的第一个传染病流行病学报告，基于国家PID登记册。临床数据，PID患者的表型和遗传特征为我国原发性免疫缺陷疾病的性质提供了重要信息。
