俄罗斯联邦儿童中罕见出血性疾病的患病率

P. Zharkov, D. B. Florinskiy, O. Aleynikova, G. A. Novichkovа
{"title":"俄罗斯联邦儿童中罕见出血性疾病的患病率","authors":"P. Zharkov, D. B. Florinskiy, O. Aleynikova, G. A. Novichkovа","doi":"10.24287/1726-1708-2023-22-1-78-83","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":38370,"journal":{"name":"Pediatric Hematology/Oncology and Immunopathology","volume":"PC-22 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The prevalence of rare bleeding disorders among children in the Russian Federation\",\"authors\":\"P. Zharkov, D. B. Florinskiy, O. Aleynikova, G. A. Novichkovа\",\"doi\":\"10.24287/1726-1708-2023-22-1-78-83\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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.\",\"PeriodicalId\":38370,\"journal\":{\"name\":\"Pediatric Hematology/Oncology and Immunopathology\",\"volume\":\"PC-22 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-02-14\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Hematology/Oncology and Immunopathology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.24287/1726-1708-2023-22-1-78-83\",\"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":"Pediatric Hematology/Oncology and Immunopathology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.24287/1726-1708-2023-22-1-78-83","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

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。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
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.
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
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
期刊最新文献
Intracellular signaling involved in the programmed neutrophil cell death leading to the release of extracellular DNA traps in thrombus formation Aplastic anemia in children: the current concept of differential diagnosis Red blood cell filterability measurement in the diagnosis of hereditary spherocytosis The structure of hemostatic aggregate and the assessment of platelet functional activity using flow cytometry Chronic graft-versus-host disease after allogeneic hematopoietic stem cell transplantation
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1