俄罗斯联邦儿童中罕见出血性疾病的患病率

Q4 Medicine
P. Zharkov, D. B. Florinskiy, O. Aleynikova, G. A. Novichkovа
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引用次数: 0

摘要

罕见出血性疾病约占所有遗传性出血性疾病的3-5%。由于诊断这些疾病的罕见性和复杂性,其患病率估计差异很大。目前还没有关于罕见遗传性出血性疾病的全国性登记,其在全国范围内的流行情况也尚未得到研究。目的:估计俄罗斯儿童罕见凝血功能障碍的患病率。对于这项多中心研究,我们使用了在临床实践中收集的回顾性匿名患者数据,因此不需要伦理委员会的批准。我们分析了俄罗斯联邦72名年龄在0至18岁的罕见出血性疾病患者的完整问卷。该调查于2022年4月至6月进行。根据报道的数据,患有罕见出血性疾病的儿童总数为398例。最常见的疾病是因子VII缺乏(52%,n = 210);其次是纤维蛋白原缺乏(16%,n = 63)和X因子缺乏(12%,n = 48)。1.7%的患者(n = 7)被诊断为联合因子缺乏症,而仅有1%的患者(n = 4)被诊断为因子II缺乏症。为了确定罕见凝血障碍的实际患病率和发病率及其临床表现,并确定是否需要浓缩因子,有必要参照全国血友病登记处的做法,建立全国罕见出血性疾病登记处。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The prevalence of rare bleeding disorders among children in the Russian Federation
Rare bleeding disorders account for about 3–5% of all inherited bleeding disorders. Due to the rarity and complexity of diagnosing these disorders, their prevalence estimates vary greatly. There is currently no national registry of rare inherited bleeding disorders and their prevalence across the country has not been studied yet. Aim: to estimate the prevalence of rare coagulation disorders among Russian children. For this multicenter study, we used retrospective anonymous patient data collected during clinical practice, so the approval of the ethics committee was not required. We analyzed completed questionnaires containing the number of patients with rare bleeding disorders aged from 0 to 18 years from 72 subjects of the Russian Federation. The survey had been conducted from April to June 2022. Our analysis included patients with deficiencies of factor I, II, V, VII, X, XI or XIII, as well as with combined factor deficiencies and unspecified hemorrhagic conditions. According to the reported data, the total number of children with rare bleeding disorders is 398. The most common disorder is deficiency of factor VII (52%, n = 210); it is followed by fibrinogen deficiency (16%, n = 63) and deficiency of factor X (12%, n = 48). Deficiencies of factors XI, V and XIII account for 9% (n = 35), 5% (n = 20), and 4.5% (n = 18) of all cases, respectively. Combined factor deficiency was diagnosed in 1.7% of patients (n = 7) and factor II deficiency was detected in only 1% of patients (n = 4). In order to determine the actual prevalence and incidence of rare coagulation disorders and their clinical manifestations and to identify the need for factor concentrates, it is necessary to establish a national registry of rare bleeding disorders, following the example of the national hemophilia registry.
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来源期刊
Pediatric Hematology/Oncology and Immunopathology
Pediatric Hematology/Oncology and Immunopathology Medicine-Pediatrics, Perinatology and Child Health
CiteScore
0.40
自引率
0.00%
发文量
49
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