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系统性红斑狼疮合并Glanzmann血小板减少症:一例报告及文献复习

Concomitant Systemic Lupus Erythematosus and Glanzmann Thrombocytopenia: A Case Report and Literature Review.

作者信息

Noory Maryam, Hajian Haniyeh, Kompani Farzad, Kiumarsi Azadeh, Shahrooei Mohammad, Ziaee Vahid

机构信息

Children's Medical Center, Pediatrics Center of Excellence, Tehran, Iran.

Department of Pediatrics, Tehran University of Medical Science, Tehran, Iran.

出版信息

Case Rep Rheumatol. 2025 Apr 15;2025:1543762. doi: 10.1155/crrh/1543762. eCollection 2025.

DOI:10.1155/crrh/1543762
PMID:40264706
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12014255/
Abstract

Glanzmann thrombasthenia (GT) is a rare disease that manifests with bleeding in different parts such as epistaxis and bruising. GT can be congenital or acquired. Systemic lupus erythematosus (SLE) is an autoimmune disorder. It is mentioned that the acquired type can be associated with other disorders like malignancies and autoimmune disorders. There is no report about the co-occurrence of congenital GT with SLE. In this report, we present this co-occurrence in a girl. An 11-year-old girl was referred to our clinic with severe and uncontrolled epistaxis. She had a history of recurrent epistaxis, gastrointestinal bleeding, and bruising. She also had a malar rash and generalized body pain. She was admitted, and after clinical and laboratory assessments, a co-occurrence of congenital GT with SLE was diagnosed. The co-occurrence of congenital GT and SLE has not been reported until now. Patients with this presentation should be closely followed up because the risk of bleeding is high for them.

摘要

血小板无力症(GT)是一种罕见疾病,表现为鼻出血和瘀伤等不同部位出血。GT可分为先天性或后天性。系统性红斑狼疮(SLE)是一种自身免疫性疾病。据提及,后天性类型可与其他疾病如恶性肿瘤和自身免疫性疾病相关。尚无先天性GT与SLE同时发生的报道。在本报告中,我们介绍了一名女孩同时患有这两种疾病的情况。一名11岁女孩因严重且难以控制的鼻出血被转诊至我们的诊所。她有反复鼻出血、胃肠道出血和瘀伤史。她还出现了蝶形红斑和全身疼痛。她入院后,经过临床和实验室评估,诊断为先天性GT与SLE同时存在。此前从未有过先天性GT与SLE同时发生的报道。有这种表现的患者应密切随访,因为他们出血风险很高。

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本文引用的文献

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Systemic Lupus Erythematosus Pathogenesis: Interferon and Beyond.系统性红斑狼疮的发病机制:干扰素及其他因素
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Missed at first Glanz: Glanzmann thrombasthenia initially misdiagnosed as Von Willebrand Disease.初次检查时漏诊:最初被误诊为血管性血友病的血小板无力症。
Transfus Apher Sci. 2019 Feb;58(1):58-60. doi: 10.1016/j.transci.2018.11.008. Epub 2018 Dec 5.
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Systemic lupus erythematosus: Diagnosis and clinical management.系统性红斑狼疮:诊断与临床管理。
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Inherited platelet functional disorders: General principles and practical aspects of management.遗传性血小板功能障碍:管理的一般原则与实践要点
Transfus Apher Sci. 2018 Aug;57(4):494-501. doi: 10.1016/j.transci.2018.07.010. Epub 2018 Jul 19.
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Glanzmann Thrombasthenia: A Clinicopathological Profile.血小板无力症:临床病理特征
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