新生儿起病 2B 型血管性血友病 due to p.Arg1306Trp Variant：病例报告及文献复习。
Neonatal Onset Type 2B von Willebrand Disease due to p.Arg1306Trp Variant: a Case Report and a Literature Review.
出版信息
Clin Lab. 2024 Aug 1;70(8). doi: 10.7754/Clin.Lab.2024.240145.
BACKGROUND
Type 2B von Willebrand disease (VWD) is a less common subtype and is difficult to diagnose. This case report and literature review highlights a rare neonatal onset of type 2B VWD initially misdiagnosed as neonatal alloimmune thrombocytopenia (NAIT).
METHODS
The neonate presented with severe thrombocytopenia and was unresponsive to NAIT treatments. Genetic testing was conducted because of the unclear family history of thrombocytopenia.
RESULTS
Next-generation sequencing revealed a p.Arg1306Trp von Willebrand factor variant, confirming type 2B VWD.
CONCLUSIONS
This study underscores the critical role of genetic testing in diagnosing challenging cases of neonatal thrombocytopenia, irrespective of family history, and aims to elucidate the clinical manifestations and course of neonatal onset type 2B VWD.
背景
2B 型血管性血友病（VWD）是一种较少见的亚型，诊断较为困难。本病例报告和文献复习强调了一种罕见的新生儿起病的 2B 型 VWD，最初误诊为新生儿同种免疫性血小板减少症（NAIT）。
方法
患儿表现为严重血小板减少，对 NAIT 治疗无反应。由于血小板减少症的家族史不清楚，因此进行了基因检测。
结果
下一代测序显示血管性血友病因子 p.Arg1306Trp 变异，确诊为 2B 型 VWD。
结论
本研究强调了基因检测在诊断具有挑战性的新生儿血小板减少症病例中的关键作用，无论家族史如何，并旨在阐明新生儿起病 2B 型 VWD 的临床表现和病程。
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