Case Reports in Rheumatology最新文献

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Treatment of Down Syndrome-Associated Arthritis with JAK Inhibition. JAK抑制治疗唐氏综合征相关性关节炎。

Case Reports in Rheumatology

Pub Date : 2022-07-16 eCollection Date: 2022-01-01 DOI: 10.1155/2022/4889102

Jordan T Jones

Down syndrome (DS) results from a trisomy of chromosome 21, which causes immune dysregulation that leads to hyperactivation of interferon and Janus kinase (JAK) signaling. This results in complex medical abnormalities in the immune system and an increase in autoimmune and autoinflammatory conditions such as down syndrome-associated arthritis (DA). DA is an aggressive, destructive, inflammatory arthritis that is easily misdiagnosed and difficult to treat. Treatment commonly includes immunosuppressive therapy, but these are often associated with adverse effects and ineffectiveness. This case report outlines a 6-year-old male with DA that was successfully treated with the JAK inhibitor tofacitinib. Due to the aggressive nature of DA and poor response to many immunosuppressive therapies, this case report was created to increase awareness of JAK inhibition as an effective, well-tolerated treatment for DA.

唐氏综合症(DS)是由21号染色体三体引起的，它引起免疫失调，导致干扰素和Janus激酶(JAK)信号的过度激活。这导致免疫系统出现复杂的医学异常，并增加自身免疫和自身炎症状况，如唐氏综合征相关性关节炎(DA)。DA是一种侵袭性、破坏性、炎性关节炎，容易误诊且难以治疗。治疗通常包括免疫抑制治疗，但这些通常与不良反应和无效有关。本病例报告概述了一名6岁男性DA，成功地用JAK抑制剂tofacitinib治疗。由于DA的侵袭性和对许多免疫抑制疗法的不良反应，本病例报告的创建是为了提高人们对JAK抑制是一种有效且耐受性良好的DA治疗方法的认识。

引用次数: 1

Hydroxychloroquine and Fabry Disease: Three Case Reports Examining an Unexpected Pathologic Link and a Review of the Literature. 羟氯喹和法布里病:三例报告，检查一个意想不到的病理联系和文献复习。

Case Reports in Rheumatology

Pub Date : 2022-07-11 eCollection Date: 2022-01-01 DOI: 10.1155/2022/2930103

Rouhin Sen, Kathleen Borghoff, Kirk W Foster, Stanley J Radio, Alan Erickson, Michelene Hearth-Holmes

Background: Hydroxychloroquine is an effective and widely used treatment in multiple autoimmune connective tissue diseases that gained a lot of publicity in the coronavirus disease 2019 (COVID-19) pandemic. Our case reports are unique in that they explore the rare and sometimes overlooked effects of this drug on multiple organ systems, specifically the kidney, cardiac muscle, and skeletal muscle. We include key histologic features in images which aid in identifying and distinguishing hydroxychloroquine toxicity from mimickers. Lastly, we report the very interesting similarity in the intracellular action of hydroxychloroquine to the pathology of Fabry disease (and its associated lysosomal enzyme, α-galactosidase A). Case Presentation. We will examine the case presentations of three female Caucasian patients: a 22-year-old with lupus nephritis class V, a 72-year-old with long-standing systemic lupus erythematosus, and a 74-year-old with undifferentiated connective tissue disease. All three patients were on hydroxychloroquine therapy for varying amounts of time with histologic evidence of hydroxychloroquine toxicity that is three is present in histological samples of the kidney, the heart, and the skeletal muscle.

Conclusions: Hydroxychloroquine is a very important and beneficial medication used for various autoimmune connective tissue diseases. Clinicians should be aware of the rare but sometimes serious side effects that can result from the medication, which at times can mimic manifestations of the connective tissue disease itself or Fabry disease. A thorough investigation should be performed in these cases to properly elucidate the cause followed by the appropriate targeted therapy.

背景:羟氯喹是一种有效且广泛应用于多种自身免疫性结缔组织疾病的治疗药物，在2019冠状病毒病(COVID-19)大流行中得到了很多宣传。我们的病例报告是独一无二的，因为他们探讨了这种药物对多器官系统的罕见的、有时被忽视的影响，特别是肾脏、心肌和骨骼肌。我们包括关键的组织学特征在图像中，这有助于识别和区分羟基氯喹毒性从拟态物。最后，我们报告了羟基氯喹在细胞内的作用与Fabry病的病理(及其相关的溶酶体酶α-半乳糖苷酶A)的非常有趣的相似性。我们将研究三名女性高加索患者的病例表现:一名22岁的狼疮肾炎V级患者，一名72岁的长期系统性红斑狼疮患者，以及一名74岁的未分化结缔组织疾病患者。所有三名患者均接受羟氯喹治疗时间不等，组织学证据表明，肾、心脏和骨骼肌的组织学样本中均存在羟氯喹毒性。结论:羟氯喹是治疗多种自身免疫性结缔组织疾病的重要有益药物。临床医生应该意识到药物可能导致的罕见但有时严重的副作用，这些副作用有时可以模仿结缔组织疾病本身或法布里病的表现。在这些病例中，应进行彻底的调查，以适当地阐明病因，然后进行适当的靶向治疗。

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引用次数: 1

Massive Intestinal Bleeding in an Adult with IgA Vasculitis Treated with Intravenous Immunoglobulin. 静脉注射免疫球蛋白治疗成人IgA血管炎大出血1例。

Case Reports in Rheumatology

Pub Date : 2022-06-14 eCollection Date: 2022-01-01 DOI: 10.1155/2022/9694911

Ibrahim Nassereddin, Ariel Kenig, Yuval Ishay, Hillel Lehmann, Noa Hurvitz, Narmine Elkhateeb, Ram Gelman, Yael Ratz, Inon Sarig, Ido Burstain, Stephanie Benshushan, Fadi Kharouf

We report the case of a 29-year-old adult presenting with severe IgA vasculitis, with cutaneous, urologic, and renal manifestations. The late appearance of severe gastrointestinal bleeding dominated the clinical picture, necessitating the administration of tens of units of packed cells and the augmentation of the immunosuppressive protocol. It was not until therapy with intravenous immunoglobulin (IVIG) was introduced that the massive bleeding was controlled. We herein discuss the patient's presentation, the gastrointestinal manifestations of IgA vasculitis, the recommended treatments, and the existent evidence about IVIG therapy.

我们报告的情况下，29岁的成人提出严重的IgA血管炎，与皮肤，泌尿系统和肾脏的表现。晚期出现的严重胃肠道出血在临床表现中占主导地位，需要使用数十个单位的堆积细胞和增强免疫抑制方案。直到静脉注射免疫球蛋白(IVIG)治疗，大出血才得到控制。我们在此讨论患者的表现，IgA血管炎的胃肠道表现，推荐的治疗方法，以及现有的IVIG治疗证据。

引用次数: 1

A Case of Anti-Jo-1 Myositis with Unique Biopsy Findings 具有独特活检结果的抗jo -1肌炎1例

Case Reports in Rheumatology

Pub Date : 2022-06-06 DOI: 10.1155/2022/9096643

B. Zulfiqar, Pavel Aksionav, M. Bittar, C. Chapman

Antisynthetase syndrome (ASS) or anti-Jo-1 antibody syndrome has a classic clinical presentation including arthritis, myositis, interstitial lung disease, mechanic hands, and/or Raynaud's phenomenon. The biopsy findings are distinctive from polymyositis or dermatomyositis. We describe an interesting case of ASS where a patient presented with significant muscle weakness, proteinuria, and interstitial lung disease. She also had positive Ro-52 antibodies in addition to anti-Jo-1 antibodies. Her biopsy findings were consistent with inflammatory necrotizing myositis.

抗合成酶综合征(ASS)或抗jo -1抗体综合征具有典型的临床表现，包括关节炎、肌炎、间质性肺疾病、机械性手和/或雷诺现象。活检结果不同于多发性肌炎或皮肌炎。我们描述了一个有趣的ASS病例，患者表现为明显的肌肉无力，蛋白尿和间质性肺疾病。除了抗jo -1抗体外，她的Ro-52抗体也呈阳性。她的活检结果符合炎症性坏死性肌炎。

引用次数: 0

Tophaceous Gout in the Pancreas: Case Reports and Review of the Literature 胰腺的痛风:病例报告和文献回顾

Case Reports in Rheumatology

Pub Date : 2022-06-03 DOI: 10.1155/2022/3671627

Sooji Choi, N. Voskanian, Jeffrey Ramos, Katherine Nguyen

We report 3 patients who presented with abnormal pancreatic contents that were initially nondiagnostic but were eventually found to have urate crystal deposition consistent with pancreatic tophaceous gout. Our first case involved an ICU patient who had fever of unknown origin and refractory pancreatic pseudocyst. The other 2 patients presented with abdominal pain associated with a pancreatic mass which mimicked malignancy. After further investigation, we were able to identify pancreatic tophaceous gout as the diagnosis. Initiation of therapy led to resolution of pancreatitis in the first patient and resolution of abdominal pain and decrease in size of a pancreatic mass in the other 2 patients. The recognition of clinical gout involving the pancreas has important implications in the evaluation and care of these patients who are at high risk for tophaceous gout. In addition, the importance of specimen preparation that preserves crystals for viewing is discussed.

我们报告了3例胰腺内容物异常的患者，最初无法诊断，但最终发现尿酸结晶沉积与胰痛风一致。我们的第一个病例涉及一位ICU患者，他有不明原因的发烧和难治性胰腺假性囊肿。另外2例患者表现为腹痛并伴有胰腺肿块，类似恶性肿瘤。经过进一步的调查，我们能够确定胰腺痛风作为诊断。开始治疗后，第1例患者的胰腺炎得到缓解，另外2例患者的腹痛得到缓解，胰腺肿块变小。认识到临床痛风涉及胰腺有重要意义的评估和护理这些患者谁是风疹痛风的高风险。此外，还讨论了保存晶体以供观察的标本制备的重要性。

引用次数: 3

A Case Report of Statin-Induced Immune-Mediated Necrotizing Myopathy Treatment Challenges 他汀类药物诱导的免疫介导的坏死性肌病治疗挑战1例报告

Case Reports in Rheumatology

Pub Date : 2022-05-31 DOI: 10.1155/2022/4647227

Anwar I. Joudeh, M. K. Albuni, S. Hassen, Phool Iqbal, Elsaid M Aziz Bedair, Salah Mahdi

Statin-induced necrotizing autoimmune myopathy is an immune-mediated necrotizing myopathy related to the use of statins. It is a very rare disease, which usually presents with proximal muscle weakness and frank elevation in creatine kinase levels. Stopping statin and the use of immunosuppressive therapy are considered the mainstay therapy. Use of steroids in patients with inflammatory myopathy can be complicated by steroid-induced myopathy. Herein, we present a case of a 55-year-old patient with statin-induced necrotizing autoimmune myopathy based on the presence of proximal muscle weakness, magnetic resonance findings, suggestive muscle biopsy features, and positive anti-HMGCR autoantibodies. The patient was treated with triple immunosuppressive therapy with a particularly good response to intravenous immunoglobulin. This report highlights the importance of timely diagnosis and early use of combined immunosuppressive therapy to improve patients' outcome affected by this rare disease.

他汀类药物诱导的坏死性自身免疫性肌病是一种与他汀类药物使用有关的免疫介导的坏死性肌病。这是一种非常罕见的疾病，通常表现为近端肌肉无力和肌酸激酶水平明显升高。停止他汀类药物和使用免疫抑制疗法被认为是主要的治疗方法。炎性肌病患者使用类固醇可并发类固醇诱发的肌病。在此，我们报告了一例55岁的他汀类药物诱导的坏死性自身免疫性肌病，基于近端肌肉无力的存在，磁共振结果，暗示的肌肉活检特征，以及抗hmgcr自身抗体阳性。患者接受三联免疫抑制治疗，静脉注射免疫球蛋白反应特别好。本报告强调了及时诊断和早期使用联合免疫抑制治疗以改善这种罕见疾病影响患者预后的重要性。

引用次数: 4

Three's Company: Coexistence of Silicosis, Scleroderma, and Sjogren Syndrome in a Single Patient 三人行:矽肺、硬皮病和干燥综合征在同一患者中的共存

Case Reports in Rheumatology

Pub Date : 2022-05-27 DOI: 10.1155/2022/4487638

Alexis Ziebelman, Shir Raibman-Spector, O. Gendelman

We describe a patient who presented with silicosis, scleroderma, and Sjogren syndrome all at the same time. The diagnoses in this case are all associated with continuous exposure to crystalline silica at the patient's workplace. The following report discusses this unique presentation.

我们描述了一个病人谁提出矽肺，硬皮病，干燥综合征所有在同一时间。本病例的诊断均与患者工作场所持续接触结晶二氧化硅有关。下面的报告将讨论这种独特的表示。

引用次数: 1

Myocardial Infarction in a 7-Year-Old Girl with Polyarteritis Nodosa 7岁女童结节性多动脉炎心肌梗死1例

Case Reports in Rheumatology

Pub Date : 2022-04-26 DOI: 10.1155/2022/2175676

Lina Bayazeed, Alaa Felimban, Abdulsalam Alsaiad, Fahd Alsufiani, J. Alqanatish

Polyarteritis nodosa (PAN) is a rare systemic vasculitis that affects small to medium-sized arteries. It could affect any organ including the heart. However coronary artery involvements are very rare. We describe a young girl who presented following a histopathological diagnosis of PAN with acute chest pain, high serum troponin, and progressive ischemic changes in the electrocardiogram (ECG). Induction of remission of her disease was done with six-moths Cyclophosphamide infusions and pulse corticosteroids. In addition to anticoagulation and dual antithrombotic therapy, the disease remission was maintained with mycophenolate mofetil which helps in the recovery of coronary disease. Our case illustrates the serious cardiac involvement of PAN in a child that responded to intensive management.

结节性多动脉炎(PAN)是一种罕见的影响中小动脉的全身性血管炎。它可以影响包括心脏在内的任何器官。然而，累及冠状动脉是非常罕见的。我们描述了一个年轻的女孩，她在组织病理学诊断后出现急性胸痛，血清肌钙蛋白升高，心电图(ECG)进行性缺血改变。通过6个月环磷酰胺输注和脉冲皮质类固醇诱导其疾病缓解。除了抗凝和双重抗血栓治疗外，使用霉酚酸酯维持疾病缓解，这有助于冠心病的恢复。我们的病例说明了严重的PAN患儿心脏受累，对强化治疗有反应。

引用次数: 0

Enthesitis in Bowel-Associated Dermatosis-Arthritis Syndrome in an Ulcerative Colitis Patient 溃疡性结肠炎患者肠道相关皮肤病-关节炎综合征并发肠炎

Case Reports in Rheumatology

Pub Date : 2022-04-12 DOI: 10.1155/2022/4556250

Khalid S Alshahrani, A. Almohaya, Rayan S. Hussein, R. H. Ali

Bowel-associated dermatosis-arthritis syndrome (BADAS) is a rare and recurrent neutrophilic dermatosis condition. Due to the rarity of this syndrome and the difficulty of the disease recognition and management, there was no clear reported incidence rate of this syndrome. 20% of patients after ileojejunal bypass surgery for morbid obesity were reported, by Jorizzo et al., to have BADAS. The underlying etiology of BADAS is not fully understood; therefore, the diagnosis of this condition is difficult and the approach for the management as well. Herein, we report a case of BADAS with unusual musculoskeletal presentation.

肠相关性皮肤病-关节炎综合征(BADAS)是一种罕见的复发性中性粒细胞皮肤病。由于本病罕见，该病不易识别和治疗，目前尚无明确的发病率报道。据Jorizzo等人报道，20%因病态肥胖而接受回肠空肠搭桥手术的患者出现BADAS。BADAS的潜在病因尚不完全清楚;因此，这种疾病的诊断和治疗方法都很困难。在此，我们报告一例具有不寻常的肌肉骨骼表现的BADAS。

引用次数: 2

A Case of Rapidly Progressing Hepatocellular Carcinoma after Administration of JAK Inhibitors to Treat Rheumatoid Arthritis JAK抑制剂治疗类风湿关节炎后快速进展的肝细胞癌一例

Case Reports in Rheumatology

Pub Date : 2022-03-29 DOI: 10.1155/2022/6852189

Rioko Migita, Y. Kimoto, Junki Hiura, Yuta Okumura, T. Horiuchi

We report a case of rapidly progressing hepatocellular carcinoma after administration of Janus kinase (JAK) inhibitors to treat rheumatoid arthritis. A 76-year-old man was referred to our Department for pain in multiple joints and was diagnosed with rheumatoid arthritis. Blood tests revealed elevated hepatobiliary enzymes, but various tests revealed no signs suggestive of malignancy. He took baricitinib for 2 months followed by tofacitinib for 4 months. After that, he was diagnosed with hepatocellular carcinoma based on imaging findings and elevated tumor markers. This case showed the possibility of a causal relationship between JAK inhibitors and malignancy.

我们报告一例快速进展的肝细胞癌后给予Janus激酶(JAK)抑制剂治疗类风湿关节炎。一名76岁男性因多关节疼痛就诊于我科，诊断为类风湿关节炎。血液检查显示肝胆酶升高，但各种检查均未发现恶性肿瘤迹象。服用巴氏替尼2个月，托法替尼4个月。在那之后，他被诊断为肝细胞癌基于影像学发现和肿瘤标志物升高。这个病例显示了JAK抑制剂和恶性肿瘤之间可能存在因果关系。

引用次数: 0

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