Division of Hematology/Oncology, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA; Cancer and Blood Disorders Center, Seattle Children's Hospital MS MB.8.501, 4800 Sand Point Way Northeast, Seattle, WA 98105, USA.
Pediatr Clin North Am. 2013 Dec;60(6):1475-88. doi: 10.1016/j.pcl.2013.08.004. Epub 2013 Oct 4.
Inherited platelet function disorders are of variable severity and unknown frequency and may be difficult to diagnose. Nevertheless, they are increasingly recognized as an important cause of bleeding in pediatrics, particularly in adolescent girls with menorrhagia, where they may be more common than von Willebrand disease. This article reviews the presentation of these disorders, summarizes the most common types of platelet function disorders, discusses the challenges in diagnostic testing, and details treatment and supportive care options.
遗传性血小板功能障碍的严重程度和频率各不相同，且难以诊断。尽管如此，它们越来越被认为是儿科出血的一个重要原因，尤其是在月经过多的青春期少女中，其发病率可能高于血管性血友病。本文回顾了这些疾病的临床表现，总结了最常见的血小板功能障碍类型，讨论了诊断检测方面的挑战，并详细介绍了治疗和支持性护理的选择。
