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一名患有三 X 综合征患者的难治性血栓性血小板减少性紫癜

Refractory Thrombotic Thrombocytopenic Purpura in a Patient With Triple X Syndrome.

作者信息

da Rocha Ribas Pedro Arthur, Ghiraldi Julia, Gugelmin Giovanna, Gortz Lucas Wagner, de Carvalho Mauricio, Lenci Marques Gustavo

机构信息

Department of Internal Medicine, Clinical Hospital Complex of the Federal University of Paraná, Curitiba, BRA.

Department of Internal Medicine, School of Medicine, Federal University of Paraná, Curitiba, BRA.

出版信息

Cureus. 2024 Aug 23;16(8):e67631. doi: 10.7759/cureus.67631. eCollection 2024 Aug.

DOI:10.7759/cureus.67631
PMID:39185291
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11343689/
Abstract

Clinical manifestations of triple X syndrome (karyotype 47, XXX) can include autoimmune diseases. We describe the occurrence of acquired thrombotic thrombocytopenic purpura (TTP), an autoimmune condition, refractory to plasmapheresis and rituximab in a patient with triple X syndrome who required vincristine administration for disease remission. To our knowledge, this rare coexistence is the first of its kind reported in Brazil.

摘要

XXX综合征(核型47, XXX)的临床表现可能包括自身免疫性疾病。我们描述了一名XXX综合征患者发生获得性血栓性血小板减少性紫癜(TTP),这是一种自身免疫性疾病,对血浆置换和利妥昔单抗治疗无效,需要使用长春新碱才能使病情缓解。据我们所知,这种罕见的共存情况在巴西尚属首次报道。

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本文引用的文献

1
Diagnostic and treatment guidelines for thrombotic thrombocytopenic purpura (TTP) in Japan 2023.日本 2023 年血栓性血小板减少性紫癜(TTP)的诊断和治疗指南。
Int J Hematol. 2023 Nov;118(5):529-546. doi: 10.1007/s12185-023-03657-0. Epub 2023 Sep 10.
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A British Society for Haematology Guideline: Diagnosis and management of thrombotic thrombocytopenic purpura and thrombotic microangiopathies.英国血液学学会指南:血栓性血小板减少性紫癜和血栓性微血管病的诊断和治疗。
Br J Haematol. 2023 Nov;203(4):546-563. doi: 10.1111/bjh.19026. Epub 2023 Aug 16.
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Post-Transfusion Simultaneous Thrombotic Thrombocytopenic Purpura and Hemolytic Uremic Syndrome: A Rare Occurrence.输血后同时发生血栓性血小板减少性紫癜和溶血性尿毒症综合征:一种罕见情况。
Cureus. 2022 Oct 11;14(10):e30181. doi: 10.7759/cureus.30181. eCollection 2022 Oct.
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Refractory Thrombotic Thrombocytopenic Purpura to Therapeutic Plasma Exchange.对治疗性血浆置换难治的血栓性血小板减少性紫癜
Cureus. 2022 Sep 25;14(9):e29562. doi: 10.7759/cureus.29562. eCollection 2022 Sep.
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Race, rituximab, and relapse in TTP.种族、利妥昔单抗与 TTP 复发。
Blood. 2022 Sep 22;140(12):1335-1344. doi: 10.1182/blood.2022016640.
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Unresponsive Thrombotic Thrombocytopenic Purpura (TTP): Challenges and Solutions.无反应性血栓性血小板减少性紫癜(TTP):挑战与解决方案
Ther Clin Risk Manag. 2021 Jun 3;17:577-587. doi: 10.2147/TCRM.S205632. eCollection 2021.
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Thrombotic Thrombocytopenic Purpura: Pathophysiology, Diagnosis, and Management.血栓性血小板减少性紫癜:病理生理学、诊断与管理
J Clin Med. 2021 Feb 2;10(3):536. doi: 10.3390/jcm10030536.
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ISTH guidelines for the diagnosis of thrombotic thrombocytopenic purpura.ISTH 血栓性血小板减少性紫癜诊断指南。
J Thromb Haemost. 2020 Oct;18(10):2486-2495. doi: 10.1111/jth.15006. Epub 2020 Sep 11.
9
Comparison of the Long-Term Remission of Rituximab and Conventional Treatment for Acquired Thrombotic Thrombocytopenic Purpura: A Systematic Review and Meta-Analysis.比较利妥昔单抗与常规治疗获得性血栓性血小板减少性紫癜的长期缓解率:系统评价和荟萃分析。
Clin Appl Thromb Hemost. 2019 Jan-Dec;25:1076029618825309. doi: 10.1177/1076029618825309.
10
Clinical and laboratory diagnosis of TTP: an integrated approach.TTP 的临床与实验室诊断:一种综合方法。
Hematology Am Soc Hematol Educ Program. 2018 Nov 30;2018(1):530-538. doi: 10.1182/asheducation-2018.1.530.