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患有Glanzmann血小板无力症的兄弟姐妹的管理:一例报告。

Management of siblings with Glanzmann's thrombasthenia: A case report.

作者信息

Mathew Mebin George

机构信息

Senior Lecturer, Saveetha Dental College, Saveetha Institute of Medical and Technical Sciences, Chennai, Tamil Nadu, India.

出版信息

J Family Med Prim Care. 2020 Mar 26;9(3):1733-1735. doi: 10.4103/jfmpc.jfmpc_1083_19. eCollection 2020 Mar.

DOI:10.4103/jfmpc.jfmpc_1083_19
PMID:32509680
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7266179/
Abstract

Glanzmann's thrombasthenia is a rare, genetically inherited platelet disorder characterized by a lack of platelet aggregation. Until date, only close to 500 cases have been reported. GT is associated with clinical variability: some patients have only minimal bruising while others have frequent, severe and potentially fatal hemorrhages often making diagnosis difficult. Children are mostly diagnosed very early in life due to the spontaneous and unexplained mucocutaneous bleeding. The present case report deals with two siblings who reported with spontaneous gingival bleeding who were successfully managed by removal of local irritant factors and proper supportive care.

摘要

Glanzmann血小板无力症是一种罕见的遗传性血小板疾病,其特征是血小板聚集功能缺乏。迄今为止,仅报告了近500例病例。Glanzmann血小板无力症具有临床变异性:一些患者仅有轻微瘀伤,而另一些患者则经常出现严重且可能致命的出血,这常常使诊断变得困难。由于自发性和不明原因的黏膜皮肤出血,儿童大多在生命早期就被诊断出来。本病例报告涉及两名出现自发性牙龈出血的兄弟姐妹,他们通过去除局部刺激因素和适当的支持性护理而得到成功治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74e4/7266179/e90108651e5a/JFMPC-9-1733-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74e4/7266179/09da68734bc9/JFMPC-9-1733-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74e4/7266179/e701a53bb83e/JFMPC-9-1733-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74e4/7266179/e90108651e5a/JFMPC-9-1733-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74e4/7266179/09da68734bc9/JFMPC-9-1733-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74e4/7266179/e701a53bb83e/JFMPC-9-1733-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/74e4/7266179/e90108651e5a/JFMPC-9-1733-g003.jpg

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Management of siblings with Glanzmann's thrombasthenia: A case report.患有Glanzmann血小板无力症的兄弟姐妹的管理:一例报告。
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本文引用的文献

1
Rituximab for treatment of autoimmune acquired platelet function disorders: description of two cases of acquired Glanzmann thrombasthenia and one case of acquired delta storage pool disease.利妥昔单抗治疗自身免疫性获得性血小板功能障碍:两例获得性Glanzmann血小板无力症及一例获得性δ贮存池病病例描述
Br J Haematol. 2019 Dec;187(5):e87-e91. doi: 10.1111/bjh.16243. Epub 2019 Oct 14.
2
A unique phenotype of acquired Glanzmann thrombasthenia due to non-function-blocking anti-αIIbβ3 autoantibodies.由于非功能阻断性抗 αIIbβ3 自身抗体导致的获得性 Glanzmann 血小板无力症的独特表型。
J Thromb Haemost. 2019 Jan;17(1):206-219. doi: 10.1111/jth.14323. Epub 2018 Nov 29.
3
Dental Considerations in the Management of Glanzmann's Thrombasthenia.
Glanzmann血小板无力症管理中的牙科考量
Int J Clin Pediatr Dent. 2010 Jan-Apr;3(1):51-6. doi: 10.5005/jp-journals-10005-1054. Epub 2010 Apr 15.
4
Glanzmann's thrombasthenia: pathogenesis, diagnosis, and current and emerging treatment options.血小板无力症:发病机制、诊断以及当前和新兴的治疗选择。
J Blood Med. 2015 Jul 8;6:219-27. doi: 10.2147/JBM.S71319. eCollection 2015.
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Clinical Management of Glanzmann's Thrombasthenia: A Case Report.Glanzmann血小板无力症的临床管理:一例报告
J Dent (Tehran). 2014 Mar;11(2):242-7. Epub 2014 Mar 31.
6
Hematological and surgical management in Glanzmann's thrombasthenia: a case report.血小板无力症的血液学与外科治疗:一例报告
J Indian Soc Pedod Prev Dent. 2014 Apr-Jun;32(2):181-4. doi: 10.4103/0970-4388.131000.
7
Glanzmann thrombasthenia.血小板无力症
Orphanet J Rare Dis. 2006 Apr 6;1:10. doi: 10.1186/1750-1172-1-10.