paraproteinemia

副蛋白血症
  • 文章类型: Case Reports
    背景:副蛋白血症性角膜病变是一种罕见的疾病,其特征是在所有角膜层中弥漫性或不伴有弥漫性或斑片状假脂质沉积的双侧聚积。我们介绍了非典型的副蛋白性角膜病变病例,该病例导致感染性晶体性角膜病变的初步误诊。
    方法:一名69岁女性在白内障介入治疗期间发现无症状角膜病变。裂隙灯检查显示有几个高折射率的上皮下病灶,带有蕨类植物状分支,类似于晶体性角膜病,在她的左眼。前段光学相干断层扫描显示仅限于前基质的上皮下高反射病变。病情的进行性双侧化和进展促使我们在鉴别诊断中包括其他具有晶体角膜沉积物的实体。血液学分析显示大量的游离Kappa轻链。尽管有典型的晶体性角膜病变的临床表现,非典型的进化和测试结果使我们认为单克隆丙种球蛋白病可能是该实体的原因。
    结论:副蛋白血症性角膜病可能在其早期阶段表现为单侧上皮下晶体性角膜病。因此,在任何晶体性角膜病变的鉴别诊断中必须始终考虑到这一点,特别是当没有感染性晶体性角膜病变的诱发因素时。对这种罕见实体的早期识别对于解决相关的潜在严重全身性疾病很重要。
    BACKGROUND: Paraproteinemic keratopathy is a rare disorder characterized by the bilateral accumulation of polychromatic deposits diffusely in all corneal layers together or not with diffuse or patchy pseudo lipid deposits. We present an atypical case of paraproteinemic keratopathy which lead to an initial misdiagnosis of infectious crystalline keratopathy.
    METHODS: a 69-year-old woman with an asymptomatic keratopathy detected during a cataract intervention. Slit-lamp examination revealed several hyper refringent subepithelial foci with fern-shaped branches, resembling crystalline keratopathy, in her left eye. Anterior segment optical coherence tomography revealed exclusively subepithelial hyperreflective lesions limited to the anterior stroma. The progressive bilateralization and progression of the condition prompted us to include other entities with crystalline corneal deposits in our differential diagnosis. Hematological analysis showed a high number of free Kappa light chains. Despite the typical clinical appearance of crystalline keratopathy, the atypical evolution and test results led us to consider that monoclonal gammopathy could be the cause of this entity.
    CONCLUSIONS: Paraproteinemic keratopathy may present in its early stages as a unilateral subepithelial crystalline keratopathy. Thus, it must always be taken into account in the differential diagnosis of any crystalline keratopathy, particularly when there are no predisposing factors for an infectious crystalline keratopathy. Early recognition of this rare entity is important to address the associated potentially serious systemic disease.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    多发性骨髓瘤(MM)是一种疾病,这有时会带来诊断和监测方面的挑战。在过去的几十年中,实验室方法已通过无血清轻链(FLC)分析进行了扩展。由于FLC分析未能指示疾病进展,两个具有临床影响的指标病例引起了警报,我们旨在确定由于FLC分析方法之间已知差异而导致的任何临床后果.我们应用了两种FLC分析方法(FreeliteBindingSite[FBS]和N-LatexSiemens[NLS])对在Södravsborg血液科诊断/随访的所有MM和不确定意义的单克隆丙种球蛋白病患者,2022年4月至12月。从总共123例恶性浆细胞疾病患者中,我们确定了5例(4.1%),其中仅采用FBS方法,与NLS相反,尿液和血清电泳,可以支持诊断或检测进展。这种差异的后果不仅包括诊断或延迟治疗的改变,还包括治疗的改变。我们的研究结果表明,需要对不同FLC方法的潜在弱点有更强的认识,这需要临床化学家和血液学家之间更紧密的合作。
    Multiple myeloma (MM) is a disease, that at times poses diagnostic and monitoring challenges. Over the last decades laboratory methods have been expanded with serum free light chain (FLC) analysis. Alerted by two index cases with clinical impact due to failure of the FLC analysis to indicate a disease progression, we aimed to identify any clinical consequences due to known differences between FLC analysis methods. We applied two FLC analysis methods (Freelite Binding Site [FBS] and N-Latex Siemens [NLS]) on all patients with MM and monoclonal gammopathy of uncertain significance diagnosed/followed up at Södra Älvsborg Hematology Unit, from April to December 2022. From a total of 123 patients with malignant plasma cell disorder, we identified five cases (4.1%) where solely the FBS method, as opposed to NLS, urine and serum electrophoresis, could support diagnosis or detect progression. The consequences of this discrepancy included not only change of diagnosis or delayed therapy but also change of treatment. Our findings indicate that a stronger awareness of the potential weaknesses of different FLC methods is needed, which calls for a closer collaboration between clinical chemists and hematologists.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    暂无摘要。
    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
    一只2岁绝育的雌性小Munsterlander狗被昆虫咬伤。体格检查显示身体状况不佳,外周淋巴结肿大,怀疑脾肿大.全血细胞计数(SysmexXN-V)显示明显的白细胞增多,淋巴细胞增多和异常点图。在血液涂片上注意到异常的单形淋巴群和明显的rouleaux形成。淋巴结抽吸物含有非典型的双态淋巴细胞群,浆细胞样细胞或有缺陷的外观。在脾脏中也发现了这种双重种群,肝脏,骨髓,扁桃体,和其他组织。外周血和淋巴结克隆性检测显示克隆性BCR基因重排。流式细胞术显示淋巴结中有小尺寸B细胞(CD79aCD21MHCII)和中等尺寸B细胞(CD79aCD21-MHCII-)的混合群体,外周血中有小尺寸成熟B细胞(CD21MHCII)的优势群体。虽然蛋白是正常的,血清蛋白电泳显示α2-球蛋白分数增加,具有非典型限制性峰,通过免疫固定鉴定为单克隆IgM。尿蛋白免疫固定显示Bence-Jones蛋白尿。诊断为Waldenström巨球蛋白血症。开始化疗,但这只狗在初次就诊12个月后因明显的临床退化而被安乐死。
    A 2-year-old neutered female Small Munsterlander dog was presented for an insect bite. Physical examination revealed a poor body condition, a peripheral lymphadenomegaly, and suspected splenomegaly. A complete blood count (Sysmex XN-V) revealed marked leukocytosis with lymphocytosis and abnormal dot plots. An abnormal monomorphic lymphoid population and marked rouleaux formation were noted on the blood smear. Lymph node aspirates contained an atypical bimorphic population of lymphocytes, either with a plasmacytoid or a blastic appearance. This double population was also found in the spleen, liver, bone marrow, tonsils, and other tissues. Peripheral blood and lymph node clonality assays revealed clonal BCR gene rearrangement. Flow cytometry revealed a mixed population of small-sized B-cells (CD79a+ CD21+ MHCII+) and medium-sized B-cells (CD79a+ CD21- MHCII-) in lymph nodes and a dominant population of small-sized mature B-cells (CD21+ MHCII+) in peripheral blood. Though normoproteinemic, serum protein electrophoresis revealed an increased α2-globulin fraction with an atypical restricted peak, identified as monoclonal IgM by immunofixation. Urine protein immunofixation revealed a Bence-Jones proteinuria. A diagnosis of Waldenström\'s macroglobulinemia was made. Chemotherapy was initiated, but the dog was euthanized 12 months after the initial presentation due to marked clinical degradation.
    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
    皮肤结核(CTB)及其小杆菌形式罕见且难以诊断,尤其是在具有显著合并症的免疫功能低下患者中。该研究的目的是将微生物组和诊断链的现代概念引入临床实践(以患者为中心的护理),并呈现非典型形式的皮肤结核,坏死性非愈合性溃疡导致多微生物感染。
    研究材料包括痰液样本,支气管肺泡灌洗和皮肤溃疡,取自发展为皮肤结核的患者。进行了微生物调查,并使用基因分型和基质辅助激光解吸电离飞行时间质谱对分离物进行鉴定。
    患有体液异常(浆细胞发育不良)和严重副蛋白血症的免疫受损患者发展为多器官结核。尽管皮肤表现先于全身和肺部症状(大约半年),分枝杆菌基因分型证实皮肤溃疡和呼吸系统中存在相同的MTB菌株。因此,感染链:传播,入口的门户,和细菌在体内传播,不清楚。在伤口微生物群中发现的微生物多样性(除其他外,结核杆菌,溶血葡萄球菌,和假单胞菌)与皮肤病变的传播有关。从伤口分离的菌株的体外生物膜形成能力可以代表这些菌株的潜在毒力。因此,微生物生物膜在溃疡形成和CTB表现中的作用可能至关重要。
    应使用广泛的微生物技术对作为独特的生物膜形成生态位的严重伤口愈合进行分枝杆菌(在物种和菌株水平上)和共存微生物的测试。在具有非典型CTB表现的免疫缺陷患者中,传输链和MTB传播仍然是一个有待进一步研究的问题。
    Cutaneous tuberculosis (CTB) and its paucibacillary forms are rare and difficult to diagnose, especially in immunocompromised patients with significant comorbidity. The aim of the study was to introduce the modern concept of the microbiome and diagnostic chain into clinical practice (patient-centered care) with the presentation of an atypical form of cutaneous tuberculosis with necrotizing non-healing ulcers leading to polymicrobial infection.
    The study material included samples from sputum, broncho-alveolar lavage and skin ulcer, taken from a patient developing cutaneous tuberculosis. The microbiological investigation was performed, and identification of the isolates was carried out using genotyping and the matrix-assisted laser desorption ionization-time of flight mass spectrometry.
    The immunocompromised patient with humoral abnormality (plasma cell dyscrasia) and severe paraproteinemia developed multiorgan tuberculosis. Although cutaneous manifestation preceded systemic and pulmonary symptoms (approximately half a year), the mycobacterial genotyping confirmed the same MTB strain existence in skin ulcers and the respiratory system. Therefore, the infectious chain: transmission, the portal of entry, and bacterial spreading in vivo, were unclear. Microbial diversity found in wound microbiota (among others Gordonia bronchialis, Corynebacterium tuberculostearicum, Staphylococcus haemolyticus, and Pseudomonas oryzihabitans) was associated with the spread of a skin lesion. The in vitro biofilm-forming capacity of strains isolated from the wound may represent the potential virulence of these strains. Thus, the role of polymicrobial biofilm may be crucial in ulcer formation and CTB manifestation.
    Severe wound healing as a unique biofilm-forming niche should be tested for Mycobacterium (on species and strain levels) and coexisting microorganisms using a wide range of microbiological techniques. In immunodeficient patients with non-typical CTB presentation, the chain of transmission and MTB spread is still an open issue for further research.
    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
    暂无摘要。
    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
    肾脏疾病可以是浆细胞发育不良的初始表现或慢性表现。这里,我们描述了一例Waldenstrom巨球蛋白血症(WM)患者的肾脏淋巴瘤浸润所致的罕见肾脏疾病。一名70岁的女性,有8年的WM(IgM,κ)因肾功能下降而转诊。在介绍之前,她患有稳定的WM疾病,没有证据表明疾病负担恶化。她以前曾因SARS-CoV-2感染和急性肾损伤(AKI)住院。她的血清肌酐(sCr)在3.7mg/dL(基线0.9mg/dL)达到峰值,但在出院时恢复到1.1mg/dL。出院后两个月,她的sCr增加到1.9毫克/分升,她有新的蛋白尿1.5g/天。肾活检显示间质淋巴瘤浸润,无肾小球受累。利妥昔单抗和苯达莫司汀治疗可改善肾功能(sCr1.4mg/dL)。WM是一种罕见的血液系统恶性肿瘤,和髓外参与,包括肾脏受累,是罕见的。该病例强调了对浆细胞异常患者进行肾功能不全监测的重要性,即使患者似乎有稳定的淋巴增生性疾病。
    Kidney disease can be an initial presentation or a chronic manifestation of plasma cell dyscrasias. Here, we describe a rare presentation of kidney disease driven by lymphomatous infiltration of the kidney in a patient with Waldenstrom\'s macroglobulinemia (WM). A 70-year-old female with an 8-year history of WM (IgM, κ) was referred for declining renal function. Prior to presentation, she had stable WM disease without evidence of worsening disease burden. She had been previously hospitalized with SARS-CoV-2 infection and acute kidney injury (AKI). Her serum creatinine (sCr) peaked at 3.7 mg/dL (baseline 0.9 mg/dL) but recovered to 1.1 mg/dL by the time of discharge. Two months after discharge, her sCr increased to 1.9 mg/dL, and she had new proteinuria of 1.5 g/day. Kidney biopsy showed lymphomatous infiltration of the interstitium without glomerular involvement. Treatment with rituximab and bendamustine resulted in an improvement in renal function (sCr 1.4 mg/dL). WM is an uncommon hematologic malignancy, and extramedullary involvement, including renal involvement, is rare. This case emphasizes the importance of surveillance for kidney dysfunction in patients with plasma cell dyscrasias, even if patients appear to have stable lymphoproliferative disease.
    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
    坏死生物黄色肉芽肿(NXG)是一种罕见的皮肤病,通常与单克隆副蛋白血症和血液恶性肿瘤有关。我们报告了一例罕见的84岁绅士,患有广泛的躯干NXG和IgG-κ副蛋白血症,在六个周期的美法仑/泼尼松联合治疗后,疾病明显消退。
    Necrobiotic xanthogranuloma (NXG) is a rare dermatosis that is often associated with monoclonal paraproteinemia and hematological malignancies. We report the rare case of an 84-year-old gentleman with extensive truncal NXG and IgG-kappa paraproteinemia who achieved significant disease regression following six cycles of combination melphalan/prednisone therapy.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    暂无摘要。
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    最近在治疗和患者生存率方面的改善为从浆细胞发育不良(PCD)发展为终末期肾脏疾病(ESKD)的患者提供了肾脏移植的资格。缺乏有关该人群临床结果的数据。
    我们对器官共享/器官采购和移植网络数据集联合网络(2006-2018)进行了一项回顾性研究,以比较由于PCD与其他原因导致的ESKD肾移植受者的患者和移植物结局。
    在168369名成人首次肾移植受者中,每年0.22-0.43%的PCD是ESKD的原因。PCD组的存活和死亡供者类型均比非PCD组差{调整后的风险比[aHR]2.24[95%置信区间(CI)1.67-2.99]和aHR1.40[95%CI1.08-1.83],分别}。PCD组的生存率比糖尿病组差,但仅限于活体捐献者[aHR1.87(95%CI1.37-2.53)与aHR1.16(95%CI0.89-1.2)]。PCD患者的移植物存活率均低于非PCD患者[aHR1.72(95%CI1.91-2.56)和aHR1.30(95%CI1.03-1.66)]。与非PCD组相比,淀粉样变性患者和移植物的存活率较差,但多发性骨髓瘤的存活率无统计学差异。
    研究数据在确定肾移植的资格和讨论PCD患者的移植风险时至关重要。
    Recent improvement in treatment and patient survival has opened the eligibility of kidney transplantation to patients who developed end-stage kidney disease (ESKD) from plasma cell dyscrasias (PCDs). Data on clinical outcomes in this population are lacking.
    We conducted a retrospective study of United Network for Organ Sharing/Organ Procurement and Transplantation Network dataset (2006-2018) to compare patient and graft outcomes of kidney transplant recipients with ESKD due to PCD versus other causes.
    Among 168 369 adult first kidney transplant recipients, 0.22-0.43% per year had PCD as the cause of ESKD. The PCD group had worse survival than the non-PCD group for both living and deceased donor types {adjusted hazard ratio [aHR] 2.24 [95% confidence interval (CI) 1.67-2.99] and aHR 1.40 [95% CI 1.08-1.83], respectively}. The PCD group had worse survival than the diabetes group, but only among living donors [aHR 1.87 (95% CI 1.37-2.53) versus aHR 1.16 (95% CI 0.89-1.2)]. Graft survival in patients with PCD were worse than non-PCD in both living and deceased donors [aHR 1.72 (95% CI 1.91-2.56) and aHR 1.30 (95% CI 1.03-1.66)]. Patient and graft survival were worse in amyloidosis but not statistically different in multiple myeloma compared with the non-PCD group.
    The study data are crucial when determining kidney transplant eligibility and when discussing transplant risks in patients with PCD.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

公众号