Proud Lindsay, Ritchey A Kim
Pediatrics Residency Program, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA.
Division of Hematology/Oncology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA.
Pediatr Blood Cancer. 2017 Jan;64(1):103-105. doi: 10.1002/pbc.26168. Epub 2016 Jul 28.
Von Willebrand disease (VWD) is the most common inherited bleeding disorder, affecting one in 1,000 people. Type 2b VWD is a less common subtype caused by a gain-of-function mutation in von Willebrand factor (VWF) that leads to the formation of large, ineffective VWF-platelet multimers in circulation. This unique pathophysiology creates diagnostic and treatment dilemmas. There is limited information on the management of type 2b VWD in the neonatal period. This report describes the management of a neonate with type 2b VWD with an emphasis on the added benefit of concomitant platelet transfusion and factor replacement therapy over factor replacement therapy alone.
血管性血友病（VWD）是最常见的遗传性出血性疾病，每1000人中就有1人受其影响。2B型血管性血友病是一种较罕见的亚型，由血管性血友病因子（VWF）的功能获得性突变引起，导致循环中形成大的、无效的VWF-血小板多聚体。这种独特的病理生理学造成了诊断和治疗上的困境。关于新生儿期2B型血管性血友病的管理信息有限。本报告描述了一名2B型血管性血友病新生儿的管理情况，重点强调了联合血小板输注和因子替代疗法相对于单纯因子替代疗法的额外益处。
