autoimmune disorder

自身免疫性疾病
  • 文章类型: Case Reports
    乳糜泻(CD)是一种全身性自身免疫性疾病,由遗传易感个体的麸质摄入引发,其特征是临床表现多样。尽管流行,由于其异质性症状和意识不足,CD通常仍未被诊断。这里,我们介绍一例42岁男性胃炎患者,表现为上腹部不适和全血细胞减少症。初步调查显示血红蛋白水平为3.7g/dL,平均红细胞体积(MCV)为84fL,白细胞计数(WBC)为2420个细胞/μL,中性粒细胞计数(NEU)为1400个细胞/μL,和140,000个细胞/μL的血小板计数(PLT)。诊断检查显示了CD的证据,之后,诊断通过胃结肠镜检查得到证实.患者随后坚持无麸质饮食导致显著的临床改善。值得注意的是,在后续预约期间,观察到患者头发颜色的显著变化,促使进一步调查。患者报告说,在他三十多岁的时候,头发过早变白,在诊断为CD和开始无麸质饮食之前一直保持不变。这种独特的表现突出了CD和头发过早变白之间的潜在联系,保证进一步调查。虽然确切的机制尚不清楚,CD引起的吸收不良和营养缺乏可能导致这种变化。因此,我们主张提高认识和国际合作,以增进对这一现象及其对裁谈会管理的影响的理解。该病例强调了早期诊断和治疗CD的重要性,以及饮食干预减轻相关症状和并发症的潜力。
    Celiac disease (CD) is a systemic autoimmune disorder triggered by gluten ingestion in genetically predisposed individuals and characterized by diverse clinical presentations. Despite its prevalence, CD often remains undiagnosed due to its heterogeneous symptoms and inadequate awareness. Here, we present a case of a 42-year-old male with gastritis who presented with epigastric discomfort and pancytopenia. Initial investigations revealed a hemoglobin level of 3.7 g/dL, a mean corpuscular volume (MCV) of 84 fL, a white blood cell count (WBC) of 2420 cells/μL, a neutrophil count (NEU) of 1400 cells/μL, and a platelet count (PLT) of 140,000 cells/μL. A diagnostic workup revealed evidence of CD, and after that, the diagnosis was confirmed by gastro-colonoscopy. The patient\'s subsequent adherence to a gluten-free diet resulted in significant clinical improvement. Notably, during follow-up appointments, a notable change in the patient\'s hair color was observed, prompting further inquiry. The patient reported experiencing premature graying of hair during his late thirties, which remained unchanged until the diagnosis of CD and the initiation of a gluten-free diet. This unique manifestation highlights the potential association between CD and premature graying of the hair, warranting further investigation. While the precise mechanism remains unclear, it is plausible that CD-induced malabsorption and nutritional deficiencies may contribute to such changes. Therefore, we advocate for increased awareness and international collaboration to enhance understanding of this phenomenon and its implications for CD management. This case underscores the importance of early diagnosis and management of CD, as well as the potential for dietary interventions to alleviate associated symptoms and complications.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    特发性血小板减少性紫癜(ITP)的特征是持续的低血小板计数,这可能导致严重出血,如胃炎和出血性中风。ITP中自身抗体的形成导致血小板破坏增加,然后阻碍造血。皮质类固醇和静脉注射免疫球蛋白是用于ITP的常见治疗方法,但是它们有明显的副作用。这是一例27岁女性ITP患者贫血的病例报告,血小板减少性,初次接受romiplostim治疗后卵巢囊肿破裂。病人从液体复苏中受益,输血,和皮质类固醇治疗;然后,病人的病情好转了。这个案例突出了与管理ITP相关的并发症,强调通过定期监测个性化治疗方案的重要性,以改善获益和风险的平衡,从而为患有ITP的慢性患者提供了综合治疗。
    Idiopathic thrombocytopenic purpura (ITP) is characterized by a persistently low platelet count, which can lead to serious bleeding such as gastritis and hemorrhagic stroke. The formation of auto-antibodies in ITP leads to increased destruction of platelets and then hampers hematopoiesis. Corticosteroids and intravenous immunoglobulin are among the common treatments used for ITP, but they have significant side effects. This is a case report of a 27-year-old woman with ITP who was found to be anemic, thrombocytopenic, and had a ruptured ovarian cyst after the initial romiplostim therapy. The patient benefited from fluid resuscitation, blood transfusion, and corticosteroid therapy; then, the patient\'s condition improved. This case highlights the complications associated with managing ITP, emphasizing the importance of personalizing therapy regimens through regular monitoring to improve the balance of benefits and risk, resulting in a comprehensive treatment for chronic patients suffering from ITP.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    未分化结缔组织病(UCTD)由于其广泛的临床表现和缺乏特定的诊断标准而提出了重大的诊断挑战。我们介绍了一名22岁的女性,她最初表现出类似普通流感的症状,包括反复发烧,头痛,和体质症状。尽管最初的测试显示没有异常和自身免疫血清学阴性,她的症状持续存在,促使进一步调查。尽管随后的影像学研究没有得到明确的诊断,最初阴性结果后,她的炎症标志物升高和抗核抗体(ANA)测试逐渐阳性,提示潜在的自身免疫过程。经过六个月的持续症状,由风湿病学家开始的羟氯喹治疗使她的症状得到了显着缓解。这个案例凸显了诊断UCTD的挑战,特别是在年轻人中,症状可能在生命早期出现,没有明显的实验室异常,有时初始ANA为阴性,使其成为一个学习点,重新检查ANA水平,即使他们最初是负的。它强调了在症状不明和实验室检查结果不确定的患者中考虑UCTD的重要性。因为早期开始适当的治疗可以显着缓解症状并改善患者预后。
    Undifferentiated connective tissue disease (UCTD) poses a significant diagnostic challenge due to its wide array of clinical presentations and the absence of specific diagnostic criteria. We present the case of a 22-year-old female who initially exhibited symptoms resembling the common flu, including recurrent fever, headaches, and constitutional symptoms. Despite initial tests showing no abnormalities and negative autoimmune serology, her symptoms persisted, prompting further investigation. Although subsequent imaging studies yielded no definitive diagnosis, her elevated inflammatory markers and progressively positive antinuclear antibody (ANA) test after the initial negative result suggested an underlying autoimmune process. After six months of persistent symptoms, treatment with hydroxychloroquine initiated by a rheumatologist led to a remarkable resolution of her symptoms. This case highlights the challenge of diagnosing UCTD, particularly in young individuals, where symptoms may manifest early in life without clear laboratory abnormalities, sometimes with initial negative ANA, making it a learning point to recheck ANA levels even if they were initially negative. It underscores the importance of considering UCTD in patients with unexplained symptoms and inconclusive laboratory findings, as early initiation of appropriate treatment can significantly alleviate symptoms and improve patient outcomes.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    自身免疫性疾病是多方面的疾病,它们与其他疾病共存会给诊断和管理带来独特的挑战。这里,我们报道了1例罕见的常染色体隐性遗传高IgE综合征(AR-HIES)患儿的β地中海贫血特征.AR-HIES是一种独特的免疫缺陷性疾病,其特征是严重的湿疹和反复的细菌和病毒感染,尤其影响鼻肺系统。这个案例突出了识别和管理罕见遗传病共现的重要性,因为它会影响治疗策略和家庭咨询。在具有β地中海贫血特征的儿童中,这种独特的AR-HIES病例强调了自身免疫性疾病的复杂性以及对具有多种临床表现的患者进行综合评估的必要性。
    Autoimmune diseases are multifaceted disorders, and their coexistence with other conditions can present unique challenges in diagnosis and management. Here, we report a rare case of autosomal recessive hyper-IgE syndrome (AR-HIES) in a child with beta thalassemia trait. AR-HIES is a distinct immunodeficiency disorder characterized by severe eczema and recurrent bacterial and viral infections, particularly affecting the sinopulmonary system. This case highlights the importance of recognizing and managing the co-occurrence of rare genetic conditions, as it can impact treatment strategies and familial counseling. This unique case of AR-HIES in a child with beta thalassemia trait underscores the complexity of autoimmune disorders and the need for comprehensive evaluation in patients presenting with multiple clinical manifestations.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    重叠的自身免疫性疾病用于描述同一患者中多于一种自身免疫性疾病的共存。混合性结缔组织病(MCTD)和抗合成酶综合征(ASS)是表现为肺部受累的自身免疫性疾病,表现为持续性呼吸困难。同一患者中两种情况的共存极为罕见。我们在此报告一例44岁女性,在类风湿关节炎(抗环瓜氨酸肽(抗CCP)抗体)的背景下被诊断为具有ASS(抗Jo-1抗体)特征的MCTD,这表明用皮质类固醇和霉酚酸酯治疗后呼吸暂时改善。然而,霉酚酸酯完成后,患者的抗Jo-1抗体阴性,抗CCP抗体阳性.我们的案例强调需要识别具有复杂临床特征和表现的患者的重叠自身免疫状况,并立即应用全面的诊断方法和量身定制的治疗策略。早期诊断和积极治疗对于实现缓解和预防器官损伤至关重要。
    Overlapping autoimmune disorders are used to describe the coexistence of more than one autoimmune disease in the same patient. Mixed connective tissue disease (MCTD) and anti-synthetase syndrome (ASS) are autoimmune diseases that manifest with pulmonary involvement, presenting as persistent dyspnea. The coexistence of both conditions in the same patient is extremely rare. We herein report a case of a 44-year-old female who was diagnosed with MCTD with features of ASS (anti-Jo-1 antibody) in the setting of rheumatoid arthritis (anti-cyclic citrullinated peptide (anti-CCP) antibody), which shows temporary breathing improvement following treatment with corticosteroid and mycophenolate mofetil. However, after the completion of mycophenolate mofetil, she was found to be anti-Jo-1 antibody negative and anti-CCP antibody positive. Our case emphasizes the need to recognize overlapping autoimmune conditions in patients with complex clinical features and presentations with the immediate application of a comprehensive diagnostic approach and tailored treatment strategies. Early diagnosis and aggressive treatment are crucial for achieving remission and preventing organ damage.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    乳房植入物,无论是硅胶还是盐水填充,有一个硅胶外壳,已经使用了几十年。研究表明,硅与系统性红斑狼疮之间存在关联,类风湿性关节炎,进行性系统性硬化症,和血管炎.然而,关于乳房植入物在自身免疫性疾病发展中的作用,文献中存在争议和不一致。一名具有乳腺癌病史和干燥综合征家族史的39岁女性因抗核抗体(ANA)阳性和多关节痛而接受风湿病学检查。她接受了有纹理的盐水乳房植入物进行乳房切除术后的重建,随后出现了疲劳,她的双手双侧关节痛,手腕,和脚,她的手指肿胀,早晨长时间僵硬,无意的减肥,和干涩的眼睛。体格检查显示双侧掌指骨(MCP)轻度肿胀,近端指间关节(PIP,)和远端指间(DIP)关节,很难握拳。实验室检查显示正常的全血细胞计数(CBC)和综合代谢组(CMP),炎症标志物略有升高。自身免疫检查显示ANA阳性1:640(核仁)和1:160(斑点),U1RNP阳性,和具有阴性SSA/SSB/dsDNA和Scl-70Ab的RNA聚合酶III。在全国范围内召回增加癌症风险的选择性植入物后,她的许多症状自发地缓解了。生理盐水乳房植入物后ANA抗体阳性的炎症性关节炎的临床病例强调了从风湿病学角度考虑有机硅可能对健康产生影响的重要性。这个案例表明,存在关联可能是合理的,大规模的进一步研究将是有价值的。
    Breast implants, whether silicone or saline-filled, have a silicone shell and have been used for decades. Studies have shown an association between silicon with systemic lupus erythematosus, rheumatoid arthritis, progressive systemic sclerosis, and vasculitis. However, controversy and inconsistency have been pervasive in the literature with respect to the role of breast implants in the development of autoimmune diseases. A 39-year-old female with a past medical history of breast cancer and a family history of Sjogren\'s syndrome was referred to rheumatology for positive antinuclear antibodies (ANA) and polyarthralgia. She received textured saline breast implants for post-mastectomy reconstruction and subsequently developed fatigue, bilateral joint pain in her hands, wrists, and feet, and swelling in her fingers with prolonged morning stiffness, unintentional weight loss, and dry eyes. Physical examination revealed mild swelling of the bilateral metacarpophalangeal (MCP), proximal interphalangeal joint (PIP,) and distal interphalangeal (DIP) joints, and difficulty making a fist. Laboratory workup revealed a normal complete blood count (CBC) and comprehensive metabolic panel (CMP) with slight elevations in inflammatory markers. Autoimmune workup revealed positive ANA 1:640 (nucleolar) and 1:160 (speckled), positive U1RNP, and RNA polymerase III with negative SSA/SSB/dsDNA and Scl-70 Ab. Following elective implant removal after nationwide recall for heightened cancer risk, many of her symptoms spontaneously resolved. The clinical case of inflammatory arthritis with positive ANA antibodies following saline breast implants highlights the importance of considering the possible health implications of silicone from a rheumatologic perspective. This case demonstrates that it may be reasonable that an association exists, and further research on a large scale would be valuable.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    背景:德维奇综合征是一种罕见的自身免疫性疾病,发生在人体免疫系统损伤并错误地攻击视神经和脊髓时,导致许多神经学。症状,比如炎症,弱点,麻木,和视力问题。利妥昔单抗主要用作Devic综合征患者的免疫抑制治疗。尽管有证据表明利妥昔单抗在治疗Devic综合征患者方面有效且耐受性良好,利妥昔单抗有可能加重严重的银屑病和银屑病性关节炎发作。
    方法:在本文中,我们描述了一个58岁女性患有德维奇综合征的病例,失明,以及对利妥昔单抗反应异常好的神经系统受累。然而,她患上了严重的银屑病关节炎。退出使用利妥昔单抗后,她的银屑病关节炎症状已经缓解。然而,她确实又一次失明,利妥昔单抗再次开始。虽然她的视力有所改善,她的银屑病关节炎症状再次出现.患者改用依库珠单抗和ustekinumab,控制了她的银屑病关节炎和德维奇综合征。
    结论:很少有报道确定利妥昔单抗可诱发银屑病关节炎发作,增加了对银屑病症状潜在影响的不确定性。利妥昔单抗加重银屑病关节炎的确切机制仍不确定。该病例报告强调利妥昔单抗可使银屑病和银屑病关节炎恶化,而且Devic综合征的复杂性可能需要调整药物治疗。
    BACKGROUND: Devic\'s syndrome is a rare autoimmune disorder that occurs when the body\'s immune system damages and mistakenly attacks the optic nerves and the spinal cord, leading to numerous neurological. Symptoms, such as inflammation, weakness, numbness, and vision problems. Rituximab has mainly been utilized as an immunosuppressive therapy for patients with Devic\'s syndrome. Although evidence has shown that rituximab is efficient and well tolerated in treating patients with Devic\'s syndrome, there is the possibility of rituximab exacerbating severe psoriasis and psoriatic arthritis flare.
    METHODS: In this paper, we describe a case of a 58-year-old female with Devic\'s syndrome, blindness, and neurological involvement who responded exceptionally well to rituximab. However, she developed a severe flare of psoriatic arthritis. After withdrawing from the use of rituximab, her psoriatic arthritis symptoms had resolved. However, she did have another episode of blindness, and rituximab was started once again. Although her vision improved, her psoriatic arthritis symptoms had reoccurred. The patient was switched to eculizumab and ustekinumab, which controlled both her psoriatic arthritis and Devic\'s syndrome.
    CONCLUSIONS: Very few reports have identified rituximab to induce a flare-up of psoriatic arthritis, raising uncertainty regarding its potential effects on psoriatic symptoms. The precise mechanism underlying the exacerbation of psoriatic arthritis by rituximab remains uncertain. This case report highlights that rituximab can worsen psoriasis and psoriatic arthritis, and that the complexities of Devic\'s syndrome may require medication adjustments.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Case Reports
    获得性血友病A(AHA)是一种罕见的自身免疫性疾病,其特征是针对凝血因子VIII的自身抗体,导致出血并发症。本病例报告探讨了AHA的独特表现,最初表现为肉眼血尿,在医疗保健环境中经常遇到的症状,具有广泛的鉴别诊断。这项研究的背景突出了AHA的稀有性及其多样化的临床表现。该病例涉及一名62岁男子,没有出血性疾病史,表现为肉眼血尿,后来发展为严重的贫血和瘀斑。评估中采用的方法包括泌尿外科评估,如膀胱镜检查和计算机断层扫描,除了血液学调查,后来揭示了延长的活化部分凝血活酶时间(aPTT)和极低的因子VIII水平,表明AHA。结果显示缺乏对凝血异常的早期识别,强调在无法解释的血尿病例中需要进行全面的初步评估。患者在专门的血友病中心的治疗包括抑制剂根除治疗和急性出血发作的治疗,导致临床明显改善。从该病例得出的结论强调了在血尿的鉴别诊断中考虑AHA等罕见疾病的重要性,以及广泛诊断方法的必要性。它主张在无法解释的血尿病例中提高意识和早期凝血研究,以防止延迟诊断并改善患者预后。此病例有助于了解AHA的临床变异性以及早期和综合诊断方法在血尿评估中的关键性质。
    Acquired hemophilia A (AHA) is a rare autoimmune disorder marked by autoantibodies against coagulation factor VIII, leading to bleeding complications. This case report explores a unique presentation of AHA, initially manifested as gross hematuria, a symptom often encountered in healthcare settings with a broad range of differential diagnoses. The background of this study highlights the rarity of AHA and its diverse clinical presentations. The case involves a 62-year-old man with no history of bleeding disorders, presenting with gross hematuria and later developing severe anemia and ecchymoses. Methods employed in the evaluation included urological assessments such as cystoscopy and computed tomography, alongside hematological investigations, which later revealed a prolonged activated partial thromboplastin time (aPTT) and a critically low factor VIII level, indicative of AHA. Results showed a lack of early recognition of coagulation abnormalities, underscoring the need for comprehensive initial assessments in cases of unexplained hematuria. The patient\'s management at a specialized Hemophilia Center involved inhibitor eradication therapy and management of acute bleeding episodes, resulting in significant clinical improvement. The conclusions drawn from this case emphasize the importance of considering rare conditions like AHA in the differential diagnosis of hematuria and the necessity for a broad diagnostic approach. It advocates for heightened awareness and early coagulation studies in unexplained cases of hematuria to prevent delayed diagnoses and improve patient outcomes. This case contributes to the understanding of AHA\'s clinical variability and the critical nature of early and comprehensive diagnostic approaches in hematuria evaluation.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    系统性红斑狼疮(SLE)是一种复杂的自身免疫性疾病,症状广泛。组织结合自身抗体和复杂的免疫复合物是对器官和细胞结构的初始损伤的原因。皮肤病学征象,尤其是数字坏疽和溃疡,在系统性红斑狼疮的背景下并不常见,并且经常出现在疾病的晚期。在这次讨论中,我们提出了一个不寻常的例子,在一个患有系统性红斑狼疮的年轻儿童中,早期发作的数字坏疽和溃疡。这是不寻常的,因为SLE主要见于成年患者,但是这里的病人是一个七岁的男孩,他去看医生,因为他的身体和脸上都有荨麻疹,皮肤脱皮,和零星的发烧。初步评估很难将这种表现与急性荨麻疹分开。然而,进一步的诊断测试和血清学分析证实了患者的SLE诊断。手指的远端区域出现了数字坏疽,溃疡,和血管炎.临床和血清学检查用于确认诊断。抗核抗体(ANA),抗核糖核蛋白(抗RNP)抗体,抗史密斯(抗SM)抗体,患者的抗干燥综合征相关抗原A(抗SS-A)抗体均为阳性。这个例子强调了在医疗实践中认识到SLE的异常和严重体征的迫切需要。
    Systemic lupus erythematosus (SLE) is a complex autoimmune illness with a wide range of symptoms. Tissue-binding autoantibodies and intricate immune complexes are responsible for the initial damage to organs and cellular structures. Dermatological signs, particularly digital gangrene and ulcers, are uncommon in the context of systemic lupus erythematosus and often appear in the advanced stages of the disease. In this discussion, we present an unusual example of early-onset digital gangrene and ulcers in a young kid with systemic lupus erythematosus. It is unusual because SLE is mostly seen in adult patients, but here the patient is a seven-year-old boy who went to the doctor because he had urticarial rashes all over his body and face, skin desquamation, and sporadic fever episodes. The preliminary evaluation had difficulty separating this presentation from acute urticaria. However, further diagnostic testing and serological analysis confirmed the patient\'s SLE diagnosis. The distal regions of the fingers developed digital gangrene, ulceration, and vasculitis. Clinical and serological tests were used to confirm the diagnosis. Antinuclear antibodies (ANA), anti-ribonuclear protein (Anti-RNP) antibodies, anti-Smith (Anti-Sm) antibodies, and anti-Sjögren\'s syndrome-related antigen A (Anti-SS-A) antibodies were all positive in the patient. This example emphasizes the critical need to recognize the unusual and severe signs of SLE in medical practice.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    系统性红斑狼疮(SLE)和结节病都是复杂的自身免疫性疾病,临床表现各不相同。SLE的发病率低至每100,000人中4.91人,结节病的发病率为每10万人0.85。神经精神系统性红斑狼疮(NPSLE)的患病率为17.6%至44.5%。同时发生NPSLE和结节病,虽然罕见,提出了诊断和管理挑战。NPSLE和结节病共存导致的临床表现,它们有着共同的免疫学图景,没有明确定义。该病例报告讨论了NPSLE和结节病并存的患者,突出了这些条件之间复杂的相互作用。
    Systemic lupus erythematosus (SLE) and sarcoidosis are both complex autoimmune disorders with varying clinical manifestations. The incidence of SLE is as low as 4.91 per 100,000 population, and that of sarcoidosis is 0.85 per 100,000 population. The prevalence of neuropsychiatric systemic lupus erythematosus (NPSLE) ranges from 17.6% to 44.5%. The concurrent occurrence of NPSLE and sarcoidosis, although rare, presents diagnostic and management challenges. The clinical picture resulting from the coexistence of NPSLE and sarcoidosis, which share a common immunological picture, is not well defined. This case report discusses a patient with coexisting NPSLE and sarcoidosis, highlighting the intricate interplay between these conditions.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

公众号