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VEXAS syndrome presenting as diffuse alveolar haemorrhage.VEXAS 综合征表现为弥漫性肺泡出血。
BMJ Case Rep. 2024 Mar 27;17(3):e259474. doi: 10.1136/bcr-2023-259474.
2
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome presenting as recurrent aseptic peritonitis in a patient receiving peritoneal dialysis: a case report.X 连锁空泡化酶体相关自身炎症性疾病（VEXAS）综合征以接受腹膜透析患者反复发生无菌性腹膜炎为表现：病例报告。
BMC Nephrol. 2024 Jan 11;25(1):18. doi: 10.1186/s12882-024-03454-9.
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Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS syndrome) with prominent supraglottic larynx involvement: a case-based review.伴明显声门上喉累及的空泡化酶体相关自身炎症性疾病（VEXAS 综合征）：基于病例的综述。
Clin Rheumatol. 2022 Nov;41(11):3565-3572. doi: 10.1007/s10067-022-06338-1. Epub 2022 Aug 20.
4
Vacuoles in bone marrow progenitors: VEXAS syndrome and beyond.骨髓祖细胞中的空泡：VEXAS 综合征及其他。
Lancet Haematol. 2024 Feb;11(2):e160-e167. doi: 10.1016/S2352-3026(23)00375-7.
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Reumatol Clin (Engl Ed). 2024 Jan;20(1):47-56. doi: 10.1016/j.reumae.2023.12.004. Epub 2023 Dec 29.
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Azacitidine for patients with Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic syndrome (VEXAS) and myelodysplastic syndrome: data from the French VEXAS registry.阿扎胞苷治疗空泡酶、E1 酶、X 连锁、自身炎症、体细胞综合征（VEXAS）和骨髓增生异常综合征患者：来自法国 VEXAS 登记处的数据。
Br J Haematol. 2022 Feb;196(4):969-974. doi: 10.1111/bjh.17893. Epub 2021 Oct 14.
8
Vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome in the intensive care unit: a case report.在重症监护病房中出现空泡、E1 酶、X 连锁、自体炎症和躯体综合征：一例报告。
J Med Case Rep. 2023 Jul 22;17(1):314. doi: 10.1186/s13256-023-04034-5.
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Case Report: Coexistence of Multiple Myeloma and Auricular Chondritis in VEXAS Syndrome.病例报告：VEXAS 综合征中多发性骨髓瘤与耳软骨炎共存。
Front Immunol. 2022 Jun 9;13:897722. doi: 10.3389/fimmu.2022.897722. eCollection 2022.
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Characteristic bone marrow findings in patients with UBA1 somatic mutations and VEXAS syndrome.UBA1 体细胞突变和 VEXAS 综合征患者的特征性骨髓表现。
Semin Hematol. 2021 Oct;58(4):204-211. doi: 10.1053/j.seminhematol.2021.10.007. Epub 2021 Oct 22.

引用本文的文献

1
Clinical features and treatments of VEXAS syndrome in critical care: a scoping review.危重症护理中VEXAS综合征的临床特征与治疗：一项范围综述
Crit Care. 2025 Apr 17;29(1):154. doi: 10.1186/s13054-025-05390-y.

本文引用的文献

1
Pulmonary manifestations in VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome: a systematic review.VEXAS（空泡、E1 酶、X 连锁、自身炎症、体细胞）综合征的肺部表现：系统评价。
Rheumatol Int. 2023 Jun;43(6):1023-1032. doi: 10.1007/s00296-022-05266-2. Epub 2023 Jan 8.
2
Pleuropulmonary Manifestations of Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic (VEXAS) Syndrome.空泡、E1 酶、X 连锁、自身炎症、体细胞（VEXAS）综合征的胸膜肺表现。
Chest. 2023 Mar;163(3):575-585. doi: 10.1016/j.chest.2022.10.011. Epub 2022 Oct 20.
3
Case Report: Tocilizumab Treatment for VEXAS Syndrome With Relapsing Polychondritis: A Single-Center, 1-Year Longitudinal Observational Study In Japan.病例报告：托珠单抗治疗复发性多软骨炎相关的 VEXAS 综合征：日本单中心、为期 1 年的纵向观察研究。
Front Immunol. 2022 Jun 13;13:901063. doi: 10.3389/fimmu.2022.901063. eCollection 2022.
4
Ruxolitinib is more effective than other JAK inhibitors to treat VEXAS syndrome: a retrospective multicenter study.芦可替尼治疗 VEXAS 综合征比其他 JAK 抑制剂更有效：一项回顾性多中心研究。
Blood. 2022 Aug 25;140(8):927-931. doi: 10.1182/blood.2022016642.
5
Behçet's disease with a somatic UBA1 variant:Expanding spectrum of autoinflammatory phenotypes of VEXAS syndrome.伴有体细胞UBA1变异的白塞病：VEXAS综合征自身炎症表型谱的扩展
Clin Immunol. 2022 May;238:108996. doi: 10.1016/j.clim.2022.108996. Epub 2022 Apr 7.
6
Successful allogeneic hematopoietic stem cell transplantation in patients with VEXAS syndrome: a 2-center experience.成功进行 VEXAS 综合征患者的异基因造血干细胞移植：来自 2 个中心的经验。
Blood Adv. 2022 Feb 8;6(3):998-1003. doi: 10.1182/bloodadvances.2021004749.
7
VEXAS syndrome: relapsing polychondritis and myelodysplastic syndrome with associated immunoglobulin A vasculitis.VEXAS综合征：复发性多软骨炎和骨髓增生异常综合征伴免疫球蛋白A血管炎。
Rheumatology (Oxford). 2022 Mar 2;61(3):e69-e71. doi: 10.1093/rheumatology/keab782.
8
VEXAS syndrome-related AA amyloidosis: a case report.VEXAS综合征相关的AA型淀粉样变性：一例报告
Rheumatology (Oxford). 2021 Dec 24;61(1):e15-e16. doi: 10.1093/rheumatology/keab683.
9
VEXAS syndrome with systemic lupus erythematosus: expanding the spectrum of associated conditions.伴有系统性红斑狼疮的VEXAS综合征：扩展相关疾病谱
Arthritis Rheumatol. 2022 Feb;74(2):369-371. doi: 10.1002/art.41957. Epub 2021 Dec 27.
10
A case of VEXAS syndrome manifesting as Kikuchi-Fujimoto disease, relapsing polychondritis, venous thromboembolism and macrocytic anaemia.一例表现为菊池-藤本病、复发性多软骨炎、静脉血栓栓塞和大细胞贫血的VEXAS综合征病例。
Rheumatology (Oxford). 2021 Sep 1;60(9):e304-e306. doi: 10.1093/rheumatology/keab200.

VEXAS 综合征表现为弥漫性肺泡出血。

VEXAS syndrome presenting as diffuse alveolar haemorrhage.

机构信息

General Medicine, Division of Rheumatology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu & Kashmir, India.

General Medicine, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu & Kashmir, India

出版信息

BMJ Case Rep. 2024 Mar 27;17(3):e259474. doi: 10.1136/bcr-2023-259474.

DOI:10.1136/bcr-2023-259474
PMID:38538102
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10982693/
Abstract

We report the case of a man in his late 30s who presented with a history of breathlessness and cough with haemoptysis. Complete blood counts revealed pancytopenia. High-resolution CT showed diffuse bilateral ground glass opacities. Sequential bronchoalveolar lavage confirmed alveolar haemorrhage. Bone marrow aspiration showed vacuoles in erythroid and myeloid precursor cells. The genome was sequenced, and the UBA1 gene revealed a c.121 A>G mutation (p.Met41Val), confirming vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome. The patient was managed with high-dose prednisolone pulse therapy. He improved with the complete resolution of the alveolar haemorrhage and an improvement in lung function and cytopenias.

摘要

我们报告了一例 30 多岁男性患者，其病史为呼吸困难、咳嗽伴咯血。全血细胞计数显示全血细胞减少。高分辨率 CT 显示弥漫性双侧磨玻璃影。序贯支气管肺泡灌洗证实为肺泡出血。骨髓抽吸显示红系和髓系前体细胞有空泡。对基因组进行测序，UBA1 基因显示 c.121 A>G 突变（p.Met41Val），证实有空泡、E1 酶、X 连锁、自身炎症、体细胞综合征。该患者接受了大剂量泼尼松龙脉冲治疗。他的肺泡出血完全缓解，肺功能和细胞减少症得到改善。