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Case Report: An Infant with Severe Thrombocytopenia Diagnosed with Type 2B von Willebrand Disease Due To a De Novo p.Val1316Met Mutation.

作者信息

Fan Junjie, Ling Jing, Zhou Huifeng, He Jie, Hu Shaoyan

机构信息

Children’s Hospital of Soochow University, Department of Hematology and Oncology, Jiangsu, China

出版信息

Turk J Haematol. 2020 Nov 19;37(4):296-298. doi: 10.4274/tjh.galenos.2020.2020.0213. Epub 2020 Jul 3.

DOI:10.4274/tjh.galenos.2020.2020.0213
PMID:32618441
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7702659/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf49/7702659/c08a399d7654/TJH-37-296-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf49/7702659/c08a399d7654/TJH-37-296-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf49/7702659/c08a399d7654/TJH-37-296-g1.jpg

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Case Report: An Infant with Severe Thrombocytopenia Diagnosed with Type 2B von Willebrand Disease Due To a De Novo p.Val1316Met Mutation.病例报告：一名患有严重血小板减少症的婴儿因新发p.Val1316Met突变被诊断为2B型血管性血友病。
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Type 2B von Willebrand Disease: Early Manifestation as Neonatal Thrombocytopenia.2B 型血管性血友病：新生儿血小板减少症的早期表现。
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A family having type 2B von Willebrand disease with an R1306W mutation: Severe thrombocytopenia leads to the normalization of high molecular weight multimers.一个患有 2B 型血管性血友病的家族，该家族带有 R1306W 突变：严重的血小板减少症导致高分子量多聚体的正常化。
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引用本文的文献

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本文引用的文献

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How I treat type 2B von Willebrand disease.我如何治疗 2B 型血管性血友病。
Blood. 2018 Mar 22;131(12):1292-1300. doi: 10.1182/blood-2017-06-742692. Epub 2018 Jan 29.
2
Diagnosing von Willebrand disease: genetic analysis.诊断血管性血友病：基因分析
Hematology Am Soc Hematol Educ Program. 2016 Dec 2;2016(1):678-682. doi: 10.1182/asheducation-2016.1.678.
3
Management of type 2b von Willebrand disease in the neonatal period.新生儿期2b型血管性血友病的管理
Pediatr Blood Cancer. 2017 Jan;64(1):103-105. doi: 10.1002/pbc.26168. Epub 2016 Jul 28.
4
Type 2B von Willebrand Disease: A Matter of Plasma Plus Platelet Abnormality.2B型血管性血友病：血浆加血小板异常问题
Semin Thromb Hemost. 2016 Jul;42(5):478-82. doi: 10.1055/s-0036-1579638. Epub 2016 May 5.
5
An update on type 2B von Willebrand disease.2B型血管性血友病的最新进展。
Expert Rev Hematol. 2014 Apr;7(2):217-31. doi: 10.1586/17474086.2014.868771. Epub 2014 Feb 12.
6
Diagnosis and management of the fetus and neonate with alloimmune thrombocytopenia.胎儿及新生儿同种免疫性血小板减少症的诊断与管理
J Thromb Haemost. 2009 Jul;7 Suppl 1:253-7. doi: 10.1111/j.1538-7836.2009.03380.x.
7
Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients.2B型血管性血友病患者血小板减少症的临床和分子预测因素及出血风险：一项对67例患者的队列研究
Blood. 2009 Jan 15;113(3):526-34. doi: 10.1182/blood-2008-04-152280. Epub 2008 Sep 19.
8
Impaired megakaryocytopoiesis in type 2B von Willebrand disease with severe thrombocytopenia.2B型血管性血友病伴严重血小板减少症时巨核细胞生成受损。
Blood. 2006 Oct 15;108(8):2587-95. doi: 10.1182/blood-2006-03-009449. Epub 2006 May 23.
9
Platelet aggregation induced by 1-desamino-8-D-arginine vasopressin (DDAVP) in Type IIB von Willebrand's disease.1-去氨基-8-D-精氨酸加压素（DDAVP）诱导的IIB型血管性血友病患者的血小板聚集。
N Engl J Med. 1983 Oct 6;309(14):816-21. doi: 10.1056/NEJM198310063091402.