确定儿科患者中具有特定 VWF:RCof/ VWF:Ag 比率的各种 VWD 亚型的发病率

Mirza Asif Baig, Anas M. Khan, Ameen D. Bakhsh, Thamer Ali Aljohani, Ahmed al Mutairi, Afrah S. Alharbi, Abrar Aljohani, Ahmed A. Alenezi, Abdulrahim A, Ayshah M. Mostafa, Ghadeer aljohani, Zaraah sofiyani, Mona altarqyi, Fayza Ahmed
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引用次数: 0

摘要

背景:VWD是最常见的遗传性出血性疾病,其特征是VWF的浓度、结构或功能缺陷。根据疾病严重程度和遗传模式的不同,VWD 主要分为三种类型(1 型、2A 型、2B 型、2M 型、2N 型和 3 型)。研究方法:本研究在血液科进行,为期 05 年(2016 年 2 月至 2021 年 1 月)。在本研究中,在所有遗传性出血性疾病中,VWD 的发病率为 27%,血友病(50%),遗传性血小板疾病(14%),其余未确诊。在 VWD 中,1 型 VWD 是最常见的亚型,占病例总数的 66%。2型和3型VWD分别占总病例的23%和10%,与文献和其他研究结果有很好的相关性。讨论欧洲横断面研究得出的 3 型 VWD 人口估计值为十万分之 0.05。欧洲和西太平洋地区按 VWD 类型进行的估计报告显示,1 型 VWD 的患病率高于 2 型或 3 型:1 型 VWD 为每 100,000 人中 2.7-7.2 例,2 型为每 100,000 人中 0.8-2.5 例,3 型为每 100,000 人中 0.1-0.3 例。结论VWD通常表现为轻微的出血症状(3型VWD除外),诊断往往被延迟。及时诊断和处理有助于避免可能危及生命的出血事件和不必要的血制品暴露。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
To Determine the Incidence of Various Subtypes of VWD with Specified VWF:RCof/ VWF:Ag Ratio’s In Pediatric Patients
Background: VWD is the most common inherited bleeding disorder characterized by defects in the concentration, structure, or function VWF. There are three main types of VWD that differ according to the degree of disease severity and inheritance pattern (Type 1, Type 2A, 2B, 2M, 2N and Type 3). Methodology: This is 05 years study (Feb 2016–Jan 2021) conducted in hematology section. In present study, amongst total inherited bleeding disorders, Incidence of VWD is 27%, Hemophilia (50%), inherited platelet disorders (14%) and remainder are undiagnosed. Amongst VWD, Type 1 VWD is the most common subtype studied, comprising 66% of total cases. Type 2 & 3 VWD comprised 23% and 10% of total cases showing good correlation with the literature and other studies. Discussion: The European cross-sectional study yielded a population-based estimate of 0.05 per 100,000 for type 3 VWD. Estimates by VWD type from Europe and Western Pacific reported higher prevalence estimates for type 1 disease than type 2 or type 3: 2.7–7.2 per 100,000 for type 1 VWD, 0.8–2.5 per 100,000 for type 2, and 0.1–0.3 per 100,000 for type 3. Conclusion: VWD usually presents with mild bleeding symptoms (except in type 3 VWD) the diagnosis is often delayed. Prompt diagnosis and management can help to avoid potentially life-threatening bleeding events and unnecessary exposure to blood products.
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