Modern rheumatology case reports最新文献

{"title":"Successful control of recurrent MAS by canakinumab in a Sjogren syndrome patient with homozygous MEFV P369S variants, and review of literatures.","authors":"Nobuyuki Ono, Motoki Yoshimura, Toshiya Nishida, Yusuke Yamauchi, Goro Doi, Yoko Fuyuno, Motoshi Sonoda, Hiroaki Niiro","doi":"10.1093/mrcr/rxaf016","DOIUrl":"https://doi.org/10.1093/mrcr/rxaf016","url":null,"abstract":"<p><p>Macrophage activation syndrome (MAS) is an autoinflammatory condition, which severely complicates autoimmune diseases, such as SJIA, AOSD and SLE. MEFV gene encodes a component of Pyrin inflammasome, whose variants cause familial Mediterranean fever (FMF). We experienced a recurrent MAS case with homozygous MEFV P369S variants accompanied with Sjogren syndrome and pulmonary arterial hypertension, whose recurrent MAS was successfully treated with canakinumab. Pathogenicity of MEFV P369S variant is still inconsistent, and clinical interpretation of this variant is challenging. Thus, we reviewed previous literatures, and revealed that the majority of FMF patients with collagen diseases in carried MEFV P369S variant, all of which were reported from Japan. In this case-based review, we clarify the epidemiology of MEFV variants in collagen diseases and discuss the significance of their genetic analysis.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143569210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Low-density lipoprotein apheresis for refractory lupus nephritis: A case demonstrating marked improvement in proteinuria, hematuria, and renal function.","authors":"Narumichi Iwamura, Yuta Matsukuma, Kanako Tsutsumi, Narumi Higashi, Seiya Shomura, Noriko Uesugi, Takafumi Hamashoji, Yui Arita, Takashi Deguchi, Toshiaki Nakano","doi":"10.1093/mrcr/rxaf009","DOIUrl":"https://doi.org/10.1093/mrcr/rxaf009","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) predominantly involves the kidneys, causing lupus nephritis. Patients with diffuse proliferative lupus nephritis frequently experience poor outcomes despite advances in immunosuppressive therapies. Low-density lipoprotein apheresis (LDL-A) has been a potential therapeutic option for steroid-resistant nephrotic syndromes, but its efficacy in lupus nephritis remains unknown. Here, we report the case of a 26-year-old female patient with SLE and renal pathology society classification IV + Ⅴ (G) A/C lupus nephritis who developed refractory nephrotic syndrome, severe hematuria, and declining renal function. Initial induction therapy was insufficient. Consequently, LDL-A significantly improved proteinuria, hematuria, and renal function. The urinary protein-to-creatinine ratio decreased from 7.15 g/gCr to 0.610 g/gCr, and hematuria dropped from >100 to 10-19 erythrocytes per high-power field. Additionally, complement levels were improved and anti-double-stranded DNA antibody titers were reduced. Ascribing these improvements solely to LDL-A remains challenging, but the rapid proteinuria and hematuria reduction within 48 h indicates a substantial contribution of LDL-A to the clinical response. The effluent from LDL-A contained not only LDL cholesterol but also measurable amounts of IgG and IgM, which may have contributed to the reduction in lupus nephritis activity. This case represents the first report of a marked hematuria reduction following LDL-A in lupus nephritis. LDL-A is a valuable adjunctive treatment in patients with refractory nephrotic syndrome or highly active lupus nephritis unresponsive to conventional induction therapies.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143366230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Breakthrough herpes zoster following recombinant zoster vaccinations in a rheumatoid arthritis patient receiving a Janus kinase inhibitor: A case report and literature review.","authors":"Shunya Nagata, Naoto Yokogawa","doi":"10.1093/mrcr/rxaf012","DOIUrl":"https://doi.org/10.1093/mrcr/rxaf012","url":null,"abstract":"<p><p>The recombinant zoster vaccine (RZV) is immunologically and clinically effective in immunosuppressed patients. Though rheumatoid arthritis (RA) and the Janus kinase inhibitor (JAKi) increase the risk of herpes zoster (HZ) infection, breakthrough cases in which a HZ infection followed RZV administration are rare. We report herein a 63-year-old female patient with seropositive RA who experienced a HZ infection despite receiving the RZV. She had been receiving tocilizumab, methotrexate, and low-dose prednisolone until tocilizumab was switched to upadacitinib four weeks after two RZV administrations, which resulted in 63 weeks' remission. Her current admission was for a painful rash consisting of blisters and erythema on the right nasal alar and lips corresponding to the right V2 segment of the trigeminal nerve. HZ was diagnosed and treated for seven days with intravenous acyclovir, which alleviated the symptoms. JAKi can suppress a range of immunogenic mechanisms which underlie the efficacy of the RZV. The present patient was expected to respond favorably to the RZV because JAKi had not been administered prior to the vaccinations; however, the later start of JAKi therapy caused a breakthrough HZ infection. Immunocompromised patients have a higher risk of severe HZ, including the disseminated form, but breakthrough cases are relatively rare. The RZV is recommended as a prophylaxis against HZ as well as means of mitigating its severity when it does occur.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143124196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"12-Year-Old Girl with Systemic Lupus Erythematosus Complicated by Gangrene and Intermittent Claudication.","authors":"Takashi Uechi, Tomoko Horinouchi, Yuta Inoki, Yu Tanaka, Hideaki Kitakado, Chika Ueda, China Nagano, Masato Yamaguchi, Yoriko Tsuji, Kandai Nozu","doi":"10.1093/mrcr/rxaf006","DOIUrl":"https://doi.org/10.1093/mrcr/rxaf006","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) can present with various symptoms, including rare manifestations such as gangrene. This report describes a 12-year-old girl with SLE who presented with intermittent claudication and gangrene. Although intermittent claudication is rare in paediatric cases, it is essential to consider vascular diseases including those associated with SLE as a potential cause. The patient initially experienced pain, redness, and cold sensations in the right great toe accompanied by intermittent claudication, with symptoms worsening over time. Diagnostic imaging, including contrast-enhanced CT and MRI, revealed occlusion of the right popliteal artery with associated vasculitis and thrombosis. The diagnosis of SLE and antiphospholipid syndrome was confirmed based on clinical criteria. Treatment included prednisone, methylprednisolone pulse therapy, mycophenolate mofetil, hydroxychloroquine, and anticoagulants. The patient showed significant improvement, with resolution of the claudication and effective management of her gangrene through immunosuppressive therapy and careful wound care. This case highlights the importance of considering vascular complications in paediatric SLE and underscores the need for early diagnosis and comprehensive treatment.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143082957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of newly onset rheumatoid arthritis successfully treated with methotrexate under the anti-retrovirus therapy against HIV infection.","authors":"Ippei Miyagawa, Shingo Nakayamada, Kazuyoshi Saito, Shoichi Shimizu, Kentaro Hanami, Masanobu Ueno, Yoshiya Tanaka","doi":"10.1093/mrcr/rxaf011","DOIUrl":"https://doi.org/10.1093/mrcr/rxaf011","url":null,"abstract":"<p><p>The patient was a 70-year-old woman. In July 2018, she developed pneumocystis pneumonia and was diagnosed with human immunodeficiency virus (HIV) infection and acquired immunodeficiency syndrome (AIDS). Antiretroviral therapy (ART) was continued, the HIV-RNA load was suppressed, and the CD4+cells count was maintained. In 2024, the polyarticular pain and swelling persisted. HIV-associated arthropathy, reactive arthritis, and other diseases were excluded. The patient was diagnosed with rheumatoid arthritis (RA) according to the ACR/EULAR 2010 Rheumatoid Arthritis Classification Criteria. Joint radiography revealed narrowing of the wrist joint, and joint ultrasonography showed synovial thickening and power doppler signals, supporting the diagnosis of RA. Methotrexate was initiated, and remission was achieved and maintained. After starting MTX, HIV-RNA load increased transiently but rapidly decreased after that. CD4+cells count was maintained. Patients with HIV have underlying immune dysfunction, and RA requires treatment with immunosuppressants (DMARDs), which makes treatment challenging. Recently, HIV infection has been considered a factor that makes the diagnosis of RA difficult. When symptoms suggestive of RA are observed in HIV-infected patients, it is important to make a thorough differential diagnosis and determine a treatment plan based on the characteristics of RA complicated by HIV infection.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143076811","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Granulomatosis with Polyangiitis Initially Presenting as Frequent Urination Mimicking a Prostatic Abscess: A Case Report.","authors":"Riko Kamada, Makoto Hibino, Hikari Higa, Shigehiro Watanabe, Kazunari Maeda, Syunichi Tobe, Takuya Kakutani, Tetsuri Kondo","doi":"10.1093/mrcr/rxaf010","DOIUrl":"https://doi.org/10.1093/mrcr/rxaf010","url":null,"abstract":"<p><p>Granulomatosis with polyangiitis (GPA) rarely involves the urological system. Herein, we report the case of a 71-year-old man with GPA who presented with frequent urination and a computed tomography detected low-density area in the enlarged prostate, suggesting an abscess. The initial prostate biopsy revealed necrotic tissue consistent with a prostate abscess, with severe destruction ultimately leading to a bladder fistula. However, upon further review of the pathology samples, multinucleated giant cells were identified, raising suspicion for GPA. Further history revealed bloody nasal discharge, and biopsy results from a lung mass also indicated GPA. Based on these findings-along with sinusitis and PR3-ANCA positivity-the diagnosis of GPA was made. Our patient was treated with steroid pulse therapy; however, disease progression could not be controlled, and he died suddenly due to haemorrhagic cerebral infarction. Autopsy revealed granulomas in the lungs and spleen, crescentic glomerulonephritis in the kidneys, and haemorrhagic infarction with an embolized fibrin clot in the brain. Urogenital lesions in GPA can be challenging to diagnose due to their nonspecific presentation, and clinicians should consider GPA in patients presenting with unexplained prostatitis and systemic symptoms, as early diagnosis and treatment could prevent unnecessary surgeries and improve prognosis.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143076814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Peripheral Neuropathy in Systemic Sclerosis with Proximal Nerve Involvement: Diagnostic Challenges and Response to Corticosteroid Therapy.","authors":"Takehiro Suzuki, Takahiro Kawasaki, Goichi Beck, Noyuri Takenaka, Kotaro Ogawa, Eri Itotagawa, Kazuki Matsukawa, Michiko Ohashi, Takeshi Kaneko, Eri Oguro-Igashira, Yumiko Mizuno, Mayuko Izumi, Kohei Tsujimoto, Yasutaka Okita, Takayoshi Morita, Akane Watanabe, Yasuhiro Kato, Masayuki Nishide, Sumiyuki Nishida, Yoshihito Shima, Masashi Narazaki, Atsushi Kumanogoh","doi":"10.1093/mrcr/rxaf005","DOIUrl":"https://doi.org/10.1093/mrcr/rxaf005","url":null,"abstract":"<p><p>Peripheral neuropathy is a complication in systemic sclerosis that is occasionally encountered in clinical settings. The mechanisms underlying this condition remain unclear and treatment strategies have not yet been established, making management challenging. Here, we report a case of peripheral neuropathy associated with systemic sclerosis that was successfully treated with corticosteroid therapy despite the absence of conventional inflammatory findings on histopathology or blood tests. A 44-year-old Japanese man diagnosed with systemic sclerosis presented with gradually worsening paresthesia and gait disorder. A nerve conduction study and histological examination of a biopsy sample from the left sural nerve, where the nerve conduction study indicated abnormalities, revealed findings consistent with peripheral neuropathy associated with systemic sclerosis. The results of blood tests or cerebrospinal fluid analysis did not indicate significant inflammatory findings, aside from a slight elevation in protein levels in the cerebrospinal fluid. Similarly, the histological analysis of the nerve biopsy showed no signs of inflammation. T2-weighted magnetic resonance imaging of the lumbar region revealed hyperintensity at the nerve roots, suggesting inflammation at the nerve roots. Based on these findings, we initiated corticosteroid therapy, which led to an improvement in both the patient's symptoms and results in the nerve conduction study. This case provides new insights into the pathogenesis of peripheral neuropathy associated with systemic sclerosis and highlights that the potential benefits of immunosuppressive therapy should not be overlooked, even in the absence of conventional inflammatory signs.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143070464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful switching treatment of mepolizumab for refractory eosinophilic granulomatosis with polyangiitis and multiple organ dysfunction under benralizumab treatment: A case report.","authors":"Toshitaka Yukishima, Haruka Yonezawa, Yuya Aono, Kazuyuki Yamaguchi, Yoshiro Otsuki, Shin-Ichiro Ohmura","doi":"10.1093/mrcr/rxaf008","DOIUrl":"https://doi.org/10.1093/mrcr/rxaf008","url":null,"abstract":"<p><p>Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare necrotising vasculitis affecting small vessels accompanied by eosinophilic inflammation. Biological therapies, particularly anti-interleukin-5 (IL-5) monoclonal antibodies, have been shown to be effective in treating refractory EGPA. Mepolizumab, an anti-IL-5 monoclonal antibody, has been approved in Japan for the treatment of EGPA and has a significant glucocorticoid-sparing effect. Benralizumab, an anti-IL-5 receptor monoclonal antibody, has also been reported to reduce the glucocorticoid dose in patients with EGPA. However, several investigators have reported the development of EGPA during biologic treatment. Herein, we present a case of development of refractory EGPA under benralizumab treatment. Although the initial treatment with high-dose glucocorticoids and the administration of benralizumab were temporally effective, the patient's condition did not improve, and the eosinophil count reelevated. After switching benralizumab to mepolizumab, the patient's condition improved, and remission was achieved. Our report suggested that mepolizumab may be an effective treatment option for refractory EGPA after failure of benralizumab treatment.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143043965","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of high tibial osteotomy in a patient with psoriatic arthritis.","authors":"Mikiro Koga, Akira Maeyama, Tetsuro Ishimatsu, Tomonobu Hagio, Terufumi Shibata, Yutaro Yamasaki, Yuki Sugino, Takuaki Yamamoto","doi":"10.1093/mrcr/rxaf007","DOIUrl":"https://doi.org/10.1093/mrcr/rxaf007","url":null,"abstract":"<p><p>Traditionally, patients with rheumatic diseases, such as rheumatoid arthritis (RA), were considered off-limits for joint-sparing surgery. In the present study, we report bilateral knee joints of psoriatic arthritis coexisting with osteoarthritis, with good, albeit short-term, results. 62-year-old woman was treated for psoriatic arthritis with a biologic (adalimumab). The Disease Activity in Psoriatic Arthritis index was 7.24, indicating low disease activity. She had been suffering from bilateral knee pain for some time and was treated conservatively by her local doctor, but the pain persisted, and she came to visit us. At the initial visit, tenderness in the medial joint line of both knees and hydrarthrosis in the right knee were observed. Radiographs at the time of the initial examination showed medial type osteoarthritis (Kellgren-Lawrence classification IV) in both knees. First, interlocking closed wedge high tibial osteotomy (CWHTO) was performed on the right knee. This was followed 1 year later by right knee implant removal and interlocking CWHTO on the left knee, and implant removal on the left knee 1 year after that. The joint range of motion improved in both knees preoperatively and postoperatively, and the change in the Knee Injury and Osteoarthritis Outcome Score total from preoperative to 1 year postoperatively was from 26.0 to 59.4 points for the right knee and from 48.6 points to 70.5 points for the left knee, with improvement in both knees. Considering the patient's background, we considered high tibial osteotomy if the disease activity was controlled. However, if the disease worsens in the future, joint destruction may occur, so careful follow-up is necessary.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143030659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diffuse Alveolar Hemorrhage as the initial Presentation of Systemic Lupus Erythematous Possibly Triggered by Rhogam Injection in a 24-year-old Pregnant Woman; a case report.","authors":"Amir Khanmirzaei, Maryam Bozorgi, Gelareh Azarinoush, Fatemeh Aghaei, Asiye Bigdeli, Kimia Jazi, Akram Asghari, Maryam Masoumi","doi":"10.1093/mrcr/rxaf001","DOIUrl":"https://doi.org/10.1093/mrcr/rxaf001","url":null,"abstract":"<p><p>Diffuse Alveolar Hemorrhage (DAH) is an uncommon and potentially life-threatening occurrence in systemic lupus erythematous (SLE), involving bleeding into the alveolar space caused by the disruption of the alveolar-capillary basement membrane. We present a 24-year-old Persian woman with a complaint of progressively worsening shortness of breath following the administration of intramuscular-Rhogam after 3 days. According to her worsening clinical condition, the pregnancy was terminated. She was admitted to intensive care unit and intubated. Simultaneously, she developed fungal and bacterial pneumonia tolerant to therapies. After several investigations, the patient was finally diagnosed with SLE along with diffuse alveolar hemorrhage, as the first presentation of the disease. This is the first case of a pregnant woman experiencing diffuse alveolar hemorrhage as a Lupus flare following Rhogam injection. Clinicians should be aware of the mimicry nature of lupus, and the importance of immune reactions in these patients.</p>","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}