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儿科遗传性出血性疾病的谱系

The spectrum of inherited bleeding disorders in pediatrics.

作者信息

El-Bostany Eman A, Omer Naglaa, Salama Emad E, El-Ghoroury Eman A, Al-Jaouni Soad K

机构信息

Pediatrics Department, National Research Centre, Egypt.

出版信息

Blood Coagul Fibrinolysis. 2008 Dec;19(8):771-5. doi: 10.1097/MBC.0b013e32830f1b99.

Abstract

Inherited bleeding disorders (IBDs) are caused by quantitative and qualitative alterations of either platelets or plasma proteins involved in coagulation and fibrinolysis. Hemophilias are the most frequent IBDs; however, accumulated data from various studies reported that von Willebrand disease (VWD) is the most common cause of IBD, with an increased incidence of platelet function defects, mostly due to the increased rate of consanguinity in some communities. VWD is an inherited disorder of homeostasis due to quantitative or qualitative defect of von Willebrand factor. Data on its epidemiology and impact in developing countries are limited. The objective of this study was to assess the local prevalence of some IBD and establish the clinical and historical variables that are predictive for those bleeding disorders in pediatrics. The study involved 43 children with various bleeding manifestations and 15 age- and sex-matched controls, recruited from the Pediatrics Hematology Clinic at the National Research Centre, Sausan Mubarek children's hospital in Cairo, Egypt and the King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia. Hematological profile included platelet counts and function, prothrombin time, partial thromboplastin time, factor VIII antigen and its activity, factor IX antigen and its activity, von Willebrand factor and its activity assayed with multimeric analysis. A total of 12 (27.9%) children had VWD, 11 (25.5%) had hemophilia A, three (7%) had hemophilia B, seven (16.3%) had platelet dysfunction and 10 (23.3%) had bleeding with undiagnosed cause. Two of the VWD cases had type I, three had type II, four had type III and one case appeared to have type IIM and another to have IIB VWD. Bruising and epistaxis were the main symptoms in all children with VWD The majority of platelet dysfunction disorders were diagnosed as Glanzmann's thrombasthenia. VWD and Glanzmann's thrombasthenia should be considered not uncommon causes of IBDs in children in Egypt and Kingdom of Saudi Arabia. Routine hematological screening should be mandatory in children with positive family history of bruising and bleeding as a predictor for IBD.

摘要

遗传性出血性疾病(IBDs)是由参与凝血和纤维蛋白溶解的血小板或血浆蛋白的数量和质量改变引起的。血友病是最常见的IBDs;然而,来自各种研究的累积数据报告称,血管性血友病(VWD)是IBD最常见的原因,血小板功能缺陷的发生率增加,这主要归因于一些社区近亲结婚率的上升。VWD是由于血管性血友病因子的数量或质量缺陷导致的一种遗传性内稳态紊乱疾病。关于其在发展中国家的流行病学和影响的数据有限。本研究的目的是评估某些IBD的当地患病率,并确定预测儿科这些出血性疾病的临床和病史变量。该研究纳入了43名有各种出血表现的儿童和15名年龄及性别匹配的对照,这些儿童来自埃及开罗的国家研究中心儿科血液学诊所、苏桑·穆巴雷克儿童医院以及沙特阿拉伯王国吉达的阿卜杜勒阿齐兹国王大学医院。血液学检查包括血小板计数和功能、凝血酶原时间、部分凝血活酶时间、因子VIII抗原及其活性、因子IX抗原及其活性、血管性血友病因子及其活性(采用多聚体分析测定)。共有12名(27.9%)儿童患有VWD,11名(25.5%)患有甲型血友病,3名(7%)患有乙型血友病,7名(16.3%)有血小板功能障碍,10名(23.3%)有未确诊原因的出血。VWD病例中有2例为I型,3例为II型,4例为III型,1例似乎为IIM型,另1例为IIB型VWD。瘀斑和鼻出血是所有VWD儿童的主要症状。大多数血小板功能障碍性疾病被诊断为Glanzmann血小板无力症。在埃及和沙特阿拉伯王国,VWD和Glanzmann血小板无力症应被视为儿童IBDs的常见病因。对于有瘀伤和出血家族史阳性的儿童,应强制进行常规血液学筛查,作为IBD的预测指标。

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