出血儿童：认识遗传性血小板功能障碍。

IF 1.2 Q3 PEDIATRICS

Pediatrics in review Pub Date : 2025-07-01 DOI:10.1542/pir.2024-006425

Cameron Cooper, Katharine Halligan

{"title":"出血儿童：认识遗传性血小板功能障碍。","authors":"Cameron Cooper, Katharine Halligan","doi":"10.1542/pir.2024-006425","DOIUrl":null,"url":null,"abstract":"Although rare, inherited platelet function disorders represent an important cause of bleeding in the pediatric patient. Due to an overlap in symptoms with other causes of mucocutaneous bleeding, inherited platelet function disorders are difficult to distinguish and diagnose and often present a diagnostic conundrum for pediatricians. This review aims to highlight presenting signs and symptoms, pathogenesis, initial workup, and diagnostic criteria of inherited platelet function disorders presenting in the pediatric population.","PeriodicalId":20007,"journal":{"name":"Pediatrics in review","volume":"46 7","pages":"373-383"},"PeriodicalIF":1.2000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The Bleeding Child: Recognizing Inherited Platelet Function Disorders.\",\"authors\":\"Cameron Cooper, Katharine Halligan\",\"doi\":\"10.1542/pir.2024-006425\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Although rare, inherited platelet function disorders represent an important cause of bleeding in the pediatric patient. Due to an overlap in symptoms with other causes of mucocutaneous bleeding, inherited platelet function disorders are difficult to distinguish and diagnose and often present a diagnostic conundrum for pediatricians. This review aims to highlight presenting signs and symptoms, pathogenesis, initial workup, and diagnostic criteria of inherited platelet function disorders presenting in the pediatric population.\",\"PeriodicalId\":20007,\"journal\":{\"name\":\"Pediatrics in review\",\"volume\":\"46 7\",\"pages\":\"373-383\"},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2025-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatrics in review\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1542/pir.2024-006425\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatrics in review","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1542/pir.2024-006425","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PEDIATRICS","Score":null,"Total":0}

引用次数: 0

摘要

虽然罕见，遗传性血小板功能障碍是儿科患者出血的重要原因。由于与其他粘膜皮肤出血原因的症状重叠，遗传性血小板功能障碍难以区分和诊断，往往是儿科医生的诊断难题。这篇综述的目的是突出表现的症状和体征，发病机制，初步检查，和诊断标准的遗传性血小板功能障碍呈现在儿童人群。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

The Bleeding Child: Recognizing Inherited Platelet Function Disorders.

Although rare, inherited platelet function disorders represent an important cause of bleeding in the pediatric patient. Due to an overlap in symptoms with other causes of mucocutaneous bleeding, inherited platelet function disorders are difficult to distinguish and diagnose and often present a diagnostic conundrum for pediatricians. This review aims to highlight presenting signs and symptoms, pathogenesis, initial workup, and diagnostic criteria of inherited platelet function disorders presenting in the pediatric population.

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

Pediatrics in review 医学-小儿科

CiteScore

1.30

自引率

0.00%

发文量

109

期刊介绍： Pediatrics in Review (PIR) is the American Academy of Pediatrics’ monthly peer-reviewed continuing medical education journal, designed to keep the general pediatric clinician current in all areas of pediatric medicine and to assist those participating in the Maintenance of Certification program of the American Board of Pediatrics (ABP). The journal is one of the key components of the Academy’s continuing medical education program: PREP® (the Pediatrics Review and Education Program). Together, PIR and the PREP Self-Assessment comprise PREP The Curriculum®. Each PIR review article includes quiz questions formulated by topic experts.