sarcoidosis

结节病
  • 文章类型: Case Reports
    结瘤样反应(SLR)可发生在原发性肿瘤位置或引流淋巴结附近的几种恶性肿瘤中。很少报道患有肾细胞癌(RCC)的患者存在肿瘤周围和肿瘤内SLR。然而,肾癌与脾脏单反的关系,肝脏和其他器官在没有全身性结节病的情况下非常罕见。我们提出了一个不寻常的30多岁的绅士案例,出现左肾病变以及肝脏非特异性病变(可能是肉芽肿)的患者,脾和肺。部分肾切除标本证实常规/透明细胞RCC。组织病理学显示,广泛的上皮样肉芽肿反应影响肿瘤周围和肿瘤内区域。随访图像显示脾脏病变几乎完全消退,肝脏和肺。我们的病例支持以下假设:SLR的非干酪性肉芽肿可能是免疫介导的抗肿瘤反应的表现。
    Sarcoid -like reactions (SLRs) can occur in several malignancies adjacent to primary tumour location or the draining lymph nodes. The presence of peritumoural and intratumoural SLR in patients suffering from renal cell carcinoma (RCC) has been reported in few instances. However, the association of RCC with SLR in spleen, liver and other organs in the absence of systemic sarcoidosis is very rare.We present an unusual case of a gentleman in his 30s, who presented with a lesion in the left kidney along with non-specific lesions (likely granulomatous) in liver, spleen and lungs. Partial Nnephrectomy specimen confirmed conventional/clear cell RCC. The histopathology revealed an extensive epithelioid granulomatous reaction affecting both peritumoural and intratumoural areas. Follow-up images demonstrated an almost complete resolution of lesions in the spleen, liver and lungs. Our case supports the hypothesis that non-caseating granulomas of SLR could be a manifestation of an immunologically mediated antitumour response.
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  • 文章类型: Journal Article
    目的:评估芬兰结节病患者葡萄膜炎的可能危险因素。
    方法:结节病患者的病历表,有(n=97)或没有(n=255)葡萄膜炎,从2014年1月至2021年1月在泰斯眼科中心进行全面的眼科检查,坦佩雷大学医院,芬兰进行了研究。
    结果:结节病合并葡萄膜炎的患者淋巴细胞减少率较高(43%vs.29%,p=0.041)和较低的血清溶菌酶水平(2.0mg/Lvs.2.3mg/L,p=0.049;95%CI,-0.692至-0.002)。在二元逻辑回归分析中,溶菌酶水平或淋巴细胞减少对葡萄膜炎的可能性没有统计学意义。未发现p值≤0.05的潜在危险因素的其他差异,包括双侧肺门淋巴结肿大,血清血管紧张素转换酶(ACE)水平,性别,年龄和吸烟史。
    结论:在结节病患者中,淋巴细胞减少和血清溶菌酶水平降低可能是葡萄膜炎的危险因素。需要对结节病中的淋巴细胞和溶菌酶水平进行系统测量,以进一步了解它们作为潜在危险因素的作用。
    OBJECTIVE: To evaluate possible risk factors for uveitis among Finnish sarcoidosis patients.
    METHODS: Patient charts of patients with sarcoidosis, with (n = 97) or without (n = 255) uveitis, and with a comprehensive eye examination from January 2014 to January 2021 at Tays Eye Centre, Tampere University Hospital, Finland were studied.
    RESULTS: Sarcoidosis patients with uveitis had higher rate of lymphocytopenia (43% vs. 29%, p = 0.041) and lower serum lysozyme levels (2.0 mg/L vs. 2.3 mg/L, p = 0.049; 95% CI, -0.692 to -0.002). Lysozyme level or lymphocytopenia did not have a statistically significant effect on the probability of uveitis in a binary logistic regression analysis. No other differences in the potential risk factors with p-values ≤0.05 were found, including bilateral hilar lymphadenopathy, serum angiotensin-converting enzyme (ACE) levels, sex, age and history of smoking.
    CONCLUSIONS: Lymphocytopenia and lower serum lysozyme levels present as possible risk factors for uveitis among patients with sarcoidosis. Systematic measurement of lymphocyte and lysozyme levels in sarcoidosis is needed to further understand their role as potential risk factors.
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  • 文章类型: Journal Article
    目的:心脏结节病(CS)是指结节病的心脏受累,通常与较差的预后相关。这篇全面的综述旨在阐明与CS相关的心电图(ECG)体征和特征,以及检查现代技术及其在CS评估中的重要性。
    结果:CS的确切发病机制尚不清楚,但它源于遗传倾向个体的环境因素引发的异常免疫反应。CS表现为非心脏症状;然而,传导系统异常常见于CS患者。最常见的心电图(ECG)体征包括房室传导阻滞和室性快速性心律失常。独特的模式,例如破碎的QRS波群,T波交替,和束分支块,是心肌受累的关键指标。先进的ECG技术的应用,如信号平均ECG,Holter监测,小波变换的心电图,微伏T波交替,和人工智能支持的分析为及时检测和监测CS提供了有希望的结果。及时利用廉价且容易获得的ECG具有允许早期检测和干预CS的潜力。将人工智能模型集成到ECG分析中是提高ECG诊断准确性和进一步对CS患者进行风险分层的有希望的方法。
    OBJECTIVE: Cardiac sarcoidosis (CS) refers to cardiac involvement in sarcoidosis and is usually associated with worse outcomes. This comprehensive review aims to elucidate the electrocardiographic (ECG) signs and features associated with CS, as well as examine modern techniques and their importance in CS evaluation.
    RESULTS: The exact pathogenesis of CS is still unclear, but it stems from an abnormal immunological response triggered by environmental factors in individuals with genetic predisposition. CS presents with non-cardiac symptoms; however, conduction system abnormalities are common in patients with CS. The most common electrocardiographic (ECG) signs include atrioventricular blocks and ventricular tachyarrhythmia. Distinct patterns, such as fragmented QRS complexes, T-wave alternans, and bundle branch blocks, are critical indicators of myocardial involvement. The application of advanced ECG techniques such as signal-averaged ECG, Holter monitoring, wavelet-transformed ECG, microvolt T-wave alternans, and artificial intelligence-supported analysis holds promising outcomes for opportune detection and monitoring of CS. Timely utilisation of inexpensive and readily available ECG possesses the potential to allow early detection and intervention for CS. The integration of artificial intelligence models into ECG analysis is a promising approach for improving the ECG diagnostic accuracy and further risk stratification of patients with CS.
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  • 文章类型: Case Reports
    结节病是一种病因不明的慢性多系统肉芽肿性疾病。这在幼儿中很少见。一个9岁的男孩未能茁壮成长,皮疹,持续发烧,从5岁开始出现呼吸道症状。进行的血液检查显示血清钙和血管紧张素转换酶水平升高,左胫骨皮疹的活检显示非干酪样肉芽肿性病变。胸部计算机断层扫描显示间质性肺病,眼睛检查显示双侧葡萄膜炎。他也有感觉神经性听力障碍,肾钙化病,身材矮小。患者口服类固醇和霉酚酸酯治疗。在跟进时,他的全身特征有所改善,包括皮疹和关节炎。及早发现,诊断,结节病的适当治疗对于疾病控制和避免发病至关重要。
    Sarcoidosis is a chronic multisystem granulomatous disease of unknown etiology. It is rare in young children. A 9-year-old boy presented with failure to thrive, skin rashes, persistent fever, and respiratory symptoms since 5 years of age. Blood investigations done showed elevated serum calcium and angiotensin converting enzyme levels and biopsy of the rashes on the left shin revealed non-caseating granulomatous lesion. Computed tomography of chest revealed interstitial lung disease and examination of eyes showed bilateral uveitis. He also had sensorineural hearing impairment, nephrocalcinosis, and short stature. The patient was treated with oral steroids and mycophenolate mofetil. At follow up, there was improvement in his systemic features including rashes and arthritis. Early detection, diagnosis, and appropriate treatment of sarcoidosis are vital for disease control and to avoid morbidity.
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  • 文章类型: Case Reports
    结节病是一种多器官受累的肉芽肿性疾病,病因仍然未知。神经结节病是神经系统参与结节病。脊髓受累通常是硬膜内,但也可能发生硬脑膜外受累。这里,我们报告了一例30岁的女士,表现为亚急性发作性轻瘫伴膀胱和肠受累,最终被诊断为结节病相关的脊髓病,并具有纵向广泛的横贯性脊髓炎(LETM)表型。
    Sarcoidosis is a granulomatous disorder with multi-organ involvement, and etiology still remains unknown. Neurosarcoidosis is the involvement of the nervous system in sarcoidosis. Spinal cord involvement is usually intra-dural, but extra-dural involvement can also occur. Here, we report a case of 30 years old lady presenting with subacute onset paraparesis with bladder and bowel involvement, which was finally diagnosed as sarcoidosis-associated myelopathy with the longitudinally extensive transverse myelitis (LETM) phenotype.
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  • 文章类型: Journal Article
    由于心肌和传导系统的参与,全身性疾病可导致心脏传导阻滞。应评估患有心脏传导阻滞的年轻患者(<60)是否存在潜在的全身性疾病。这些疾病分为浸润性,风湿病,内分泌,和遗传性神经肌肉退行性疾病。由于淀粉样原纤维引起的心脏淀粉样变性和非干酪样肉芽肿引起的心脏结节病可渗入传导系统,导致心脏传导阻滞。加速的动脉粥样硬化,血管炎,心肌炎,和间质性炎症有助于风湿病的心脏传导阻滞。Myotonic,贝克尔,杜氏肌营养不良是涉及心肌骨骼肌的神经肌肉疾病,可导致心脏传导阻滞。
    Systemic diseases can cause heart block owing to the involvement of the myocardium and thereby the conduction system. Younger patients (<60) with heart block should be evaluated for an underlying systemic disease. These disorders are classified into infiltrative, rheumatologic, endocrine, and hereditary neuromuscular degenerative diseases. Cardiac amyloidosis owing to amyloid fibrils and cardiac sarcoidosis owing to noncaseating granulomas can infiltrate the conduction system leading to heart block. Accelerated atherosclerosis, vasculitis, myocarditis, and interstitial inflammation contribute to heart block in rheumatologic disorders. Myotonic, Becker, and Duchenne muscular dystrophies are neuromuscular diseases involving the myocardium skeletal muscles and can cause heart block.
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  • 文章类型: Journal Article
    结节病是一种不明原因的多系统炎症性疾病,具有从单个器官非干酪样肉芽肿部位到慢性全身性炎症和纤维化的异质性临床表现。基因表达研究表明,结节病的发病机制涉及几个基因和途径。然而,由于研究设计和可变统计方法的差异,结果通常不可重复或不一致。因此,结节病基因表达数据集的荟萃分析对于可靠地建立差异表达基因和信号通路非常重要。
    我们对22项已发表的结节病基因表达研究进行了荟萃分析。使用相同的统计截止值系统地分析数据集。通过使用Edgington's方法汇集p值鉴定差异表达的基因,并使用IngenuityPathwayAnalysis软件分析通路。
    鉴定了新的和众所周知的基因的一致和显著的特征,这些共同涉及结节病中I型和II型干扰素介导的信号通路。电脑功能分析显示真核起始因子2信号的一致下调,而干扰素和转录因子STAT1等细胞因子上调。此外,我们分析了受影响的组织,以检测可能与肉芽肿生物学有关的差异表达基因。这表明基质金属肽酶12在受影响的组织中唯一上调,提示在疾病发病机制中的关键作用。
    我们的分析提供了结节病中的简明基因标记,并扩展了我们对发病机理的认识。我们的结果对于改进当前的诊断方法和监测策略以及靶向疗法的开发具有重要意义。
    UNASSIGNED: Sarcoidosis is a multi-system inflammatory disease of unknown origin with heterogeneous clinical manifestations varying from a single organ non-caseating granuloma site to chronic systemic inflammation and fibrosis. Gene expression studies have suggested several genes and pathways implicated in the pathogenesis of sarcoidosis, however, due to differences in study design and variable statistical approaches, results were frequently not reproducible or concordant. Therefore, meta-analysis of sarcoidosis gene-expression datasets is of great importance to robustly establish differentially expressed genes and signalling pathways.
    UNASSIGNED: We performed meta-analysis on 22 published gene-expression studies on sarcoidosis. Datasets were analysed systematically using same statistical cut-offs. Differentially expressed genes were identified by pooling of p-values using Edgington\'s method and analysed for pathways using Ingenuity Pathway Analysis software.
    UNASSIGNED: A consistent and significant signature of novel and well-known genes was identified, those collectively implicated both type I and type II interferon mediated signalling pathways in sarcoidosis. In silico functional analysis showed consistent downregulation of eukaryotic initiation factor 2 signalling, whereas cytokines like interferons and transcription factor STAT1 were upregulated. Furthermore, we analysed affected tissues to detect differentially expressed genes likely to be involved in granuloma biology. This revealed that matrix metallopeptidase 12 was exclusively upregulated in affected tissues, suggesting a crucial role in disease pathogenesis.
    UNASSIGNED: Our analysis provides a concise gene signature in sarcoidosis and expands our knowledge about the pathogenesis. Our results are of importance to improve current diagnostic approaches and monitoring strategies as well as in the development of targeted therapeutics.
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  • 文章类型: Case Reports
    背景:结节病是一种多系统炎症性疾病,其特点是存在非卡式,上皮样肉芽肿。结节病患者的肾小球疾病很少见,膜性肾病(MN)被认为是最常见的。这两种疾病之间的联系仍不清楚。本文报道1例结节病与抗PLA2R相关性MN同时发生的病例,提供这两个实体之间可能的关系。
    方法:一名61岁有结节病病史的中国汉族妇女因肾病综合征入院。根据计算机断层扫描和淋巴结活检观察到的腺病诊断她的结节病。呈现肾病综合征的MN,PLA2R抗体滴度为357RU/ml,最终诊断是基于肾活检。患者结节病经泼尼松治疗后缓解。一年后,MN被诊断出,她接受了强的松联合钙调磷酸酶抑制剂治疗,基于全剂量的肾素-血管紧张素系统(RAS)抑制剂。患者的结节病已缓解,而MN复发,6年后,由于停止免疫抑制,她的肾功能恶化为终末期肾病。基因测试导致与结节病和MN相关的HLA-DRB1*0301和HLA-DRB1*150基因的鉴定,这为这两种疾病的共同发生提供了新的可能解释。
    结论:该病例首次提示特发性MN与结节病之间存在潜在的遗传联系,未来需要进一步研究。
    BACKGROUND: Sarcoidosis is a multisystemic inflammatory disease, characterized by the presence of non-caseating, epithelioid granulomas. Glomerular disease in patients with sarcoidosis is rare and membranous nephropathy (MN) is cited as the most common. The association between the two diseases remained unclear. This article reported a case of co-occurrence of sarcoidosis and anti-PLA2R-associated MN, to provide a possible relationship between these two entities.
    METHODS: A 61-year-old Chinese Han woman with a history of sarcoidosis was admitted to our hospital for nephrotic syndrome. Her sarcoidosis was diagnosed according to the adenopathy observed on the computed tomography scan and the biopsy of lymph nodes. The MN presented with nephrotic syndrome with a PLA2R antibody titer of 357RU/ml, and the final diagnosis was based on a renal biopsy. The patient\'s sarcoidosis was remitted after treatment with prednisone. One year later MN was diagnosed, and she was treated with prednisone combined with calcineurin inhibitors, based on a full dose of renin-angiotensin system (RAS) inhibitor. The patient\'s sarcoidosis had been in remission while the MN was recurrent, and her renal function deteriorated to end-stage renal disease 6 years later due to discontinuation of immunosuppression. A genetic test led to the identification of the HLA-DRB1*0301 and HLA-DRB1*150 genes associated with both sarcoidosis and MN, which provides a new possible explanation of the co-occurrence of these two diseases.
    CONCLUSIONS: This case suggested for the first time a potential genetic connection between idiopathic MN and sarcoidosis which needs further studies in the future.
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  • 文章类型: Journal Article
    结节病是一种不明原因的多系统肉芽肿性疾病。它主要被认为是一种肺部疾病,但它可以影响任何器官系统。描述了窦和内分泌功能障碍,但很少见,并且与结节病有关。
    在这里,我们描述了一个年轻的白人男子,他已经拜访了多个鼻窦炎患者,勃起功能障碍和厌食症。他在急诊科出现发烧和消瘦,多尿和多饮。血液采样结果显示高钙血症以及甲状腺功能异常。
    生化后,放射学和组织病理学检查,他被诊断为肺结节病。用皮质类固醇治疗导致鼻窦炎的消退和钙血症的正常化。以及阳痿时的甲状腺功能,仍然存在多饮和多尿。详细说明显示结节病的肺外受累,下丘脑-垂体轴功能障碍,低促性腺激素性性腺功能减退和由于鞍区肿块引起的尿崩症。
    这是一例罕见的系统性结节病,有胸部和胸部外表现,垂体和鼻窦受累。它表明结节病可以影响任何器官系统,并且在肺外表现的情况下诊断可能很困难。
    UNASSIGNED: Sarcoidosis is a multi-system granulomatous disease of unknown origin. It is mainly thought of as a lung disease but it can affect any organ system. Sinus and endocrine dysfunctions are described but are rare and seldomly linked with sarcoidosis.
    UNASSIGNED: Here we describe a case of a young Caucasian man who already visited multiple care givers for sinusitis, erectile dysfunction and anorexia. He presented at the emergency department with fever and emaciation, polyuria and polydipsia. The results of the blood sampling revealed a hypercalcaemia as well as abnormal thyroid function.
    UNASSIGNED: After biochemical, radiological and histopathological workup, he was diagnosed with pulmonary sarcoidosis. Treatment with corticosteroids resulted in resolution of the sinusitis and normalisation of the calcemia, as well as the thyroid function while the impotence, polydipsia and polyuria remained. Elaboration revealed extra-pulmonary involvement of the sarcoidosis with dysfunction of the hypothalamic-pituitary axis with hypogonadotropic hypogonadism and diabetes insipidus due to a sellar mass.
    UNASSIGNED: This is a rare case of systemic sarcoidosis with both thoracic and extra thoracic manifestations, with pituitary and sinus involvement. It shows that sarcoidosis can affect any organ system and diagnosis can be difficult in case of extrapulmonary manifestations.
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  • 文章类型: Case Reports
    布劳综合征(BS),是一种自身炎症性肉芽肿病,其特征是皮肤有明显的三联征,接头,和结节病类似的眼部疾病,但在结节病中经常观察到的肺部受累很少。BS患者的肉芽肿表现出明显的形态,表明慢性炎症反应旺盛。BS患者可能有肉芽肿性肺病变,这需要早期诊断。为了确定是否需要对肺部病变进行治疗干预,检查经支气管镜肺冷冻活检标本并积累肺部受累的BS病例可能有助于将来改善BS管理。
    Blau syndrome (BS), is an autoinflammatory granulomatosis disease characterized by a distinct triad of skin, joint, and eye disorders similar to those of sarcoidosis, but the lung involvement frequently observed in sarcoidosis are rare. Granulomas from patients with BS displayed a distinct morphology indicating an exuberant chronic inflammatory response. Patients with BS may have granulomatous lung lesions, which require early diagnosis. To determine whether therapeutic intervention is needed for lung lesions, examining transbronchial lung cryobiopsy specimens and accumulating cases of BS with lung involvement could be contributed to improving BS management in the future.
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