以肾病综合征为首症的轻链型淀粉样变性

目的　总结肾病综征患者轻链型淀粉样变性 (AL)肾脏损害的临床特征。　方法　回顾性分析2 7例AL患者临床表现、实验室检查及治疗情况。　结果　首发症状多为浮肿 ,出现蛋白尿 ,均表现为肾病综合征 (NS)。 15例患者肾脏体积增大 ,12例肾功能不全。肾外改变以心脏损害和肝脾肿大最为常见。所有AL标本均见肾小球、肾小管间质及小叶间动脉淀粉样物质沉积 ,刚果红染色 (+) ,偏光显微镜下呈苹果绿双折光。 18例高锰酸钾预处理试验不褪色 ,免疫组化淀粉样相关蛋白 (AA) (- )。 5例伴多发性骨髓瘤 (MM) ,骨髓浆细胞 >15 %。　结论　AL并非少见病 ,临床以蛋白尿和NS最常见 ,肾功能受累发生率高、肾外表现多 ,治疗效果差 ,预后差 ,伴MM的预后更差。AL误诊率高 ,确诊须靠病理检查 ,应提高对其认识。     

原发性系统性轻链型淀粉样变性1例

<正>患者,男,72岁。因“活动后胸闷半年,加重1月余”入院。2020年4月开始有活动后胸闷,休息后可缓解,一直就诊于心内科纠正心衰治疗。2020年9月患者开始感觉胸闷症状加重,药物治疗不能缓解,于是就诊于某医院行冠状动脉CTA检查：冠状动脉三支近端软斑块,管腔狭窄<50%,两侧胸腔及心包积液;免疫固定电泳阳性;     

肾淀粉样变性误诊糖尿病肾病1例

1 病例报告 患者男,60岁,因口渴、多饮12年,尿少、浮肿2年入院.患者12年前始出现口渴、多饮、多尿,化验空腹血糖12.6 mmol/L,诊断2型糖尿病,此后坚持控制饮食,口服美吡达、二甲双胍等多种降糖药,空腹血糖可控制在7 mmol/L以下.2年前无诱因出现尿少,眼睑及双下肢浮肿,多次化验尿常规示尿蛋白阳性,在多家医院诊断"糖尿病、糖尿病肾病",经多种中、西药治疗无好转,症状逐渐加重至全身高度浮肿,于2009年2月入我院.     

多中心型Castleman病2例

<正>例1.男,66岁,主因体检时发现纵隔占位3 d于2011年10月27日收入我院。患者在当地医院体检时发现纵隔占位,无明显乏力盗汗,无胸闷气短,无体质量减轻。查体:全身浅表淋巴结未触及肿大,肝脾未触及,心、肺、腹等查体未见异常。实验室检查:血WBC 4.76×10~9/L,Hb 129 g/L,PLT 21×10~9/L;总蛋白87.4 g/L,球蛋白44.4 g/L,尿酸457μmol/L,β_2-微球蛋白4.18 mg/L,IgA 3.99 g/L,IgG 28.01 g/L,补体C_3 0.56 g/L,其余生化结果正常。动态心电图示:偶发房性早搏,短阵房性     

多中心型Castleman病2例

Castleman病(Castleman disease,CD)是一种较少见、原因不明的不典型淋巴组织增殖性疾病,又称血管滤泡性淋巴样增生症或巨大淋巴结增生症。为了提高对本病的认识,现将我院2006年收治2例多中心型Castleman病报告如下:     

肿瘤科多中心型Castleman病1例

<正>Castleman病(CD)是临床少见的非典型淋巴结增生性疾病,病因不明,由于缺乏特征,临床表现多样,加之临床少见,故本病误诊、漏诊率较高,现将我科收治的1例Castleman病报告如下。1资料与方法患者男性,63岁,2008年发现胸壁及腋下包块,行胸壁包块手术切除术。术后病理:Castleman病浆细胞型,术后未行进一步治疗。2011年10月患者自觉头晕、乏力明显,并发现双颌     

重型特发性多中心型Castleman病1例

Castleman病（Castleman disease,CD）是一种尚未明确发病原因的淋巴增生性疾病,又称巨大淋巴结增生症,临床较为罕见且无特异性,漏诊误诊率较高。本文介绍1例重型特发性多中心型Castleman病（idiopathic multicentric Castleman disease,iMCD）患者的诊治经过,并通过文献复习总结该病的诊断及治疗现状,指出对于其他方案治疗失败的重型i MCD患者,使用硼替佐米联合地塞米松可以提供长期的临床效益。     

干燥综合征合并淀粉样变性三例报告

干燥综合征 (SS)合并系统性淀粉样变性非常罕见。1982年至 2 0 0 2年在我们收治的 71例淀粉样变性患者中 ,干燥综合征合并系统性淀粉样变性者共 3例 ,报告如下。例 1　女 ,6 4岁。因口眼干 1年余 ,胸闷气短 5个月 ,加重 1周入院。查体 :双眼结膜充血 ;舌体较大 ,口腔内可见龋齿     

AL型淀粉样变性肾病临床及病理特征的性别差异

目的:分析不同性别AL型淀粉样变性肾病(ANP)的临床、病理特征及其差异。方法:回顾分析2009年5月～2019年5月西安交通大学医学院第一附属医院肾内科经肾活检病理确诊的106例AL型ANP的临床资料及病理特征。结果:发病年龄:男61.00±9.84岁,女54.43±11.50岁,差异有统计学意义(P<0.05);发病时间、血压、血浆白蛋白、肾功能、24h尿蛋白定量及临床分期的发生率,2组比较差异无统计学意义(P>0.05);免疫学指标:游离κ/λ,女性显著低于男性(P<0.05);肾脏病理:淀粉样蛋白可沉积于肾小球、肾血管及肾间质,女性更多沉积于肾小球及肾间质,女性的间质纤维化与肾小管萎缩及球性硬化高于男性,差异有统计学意义(P<0.05,P<0.01)。结论:AL型ANP发病年龄女性小于男性,游离κ/λ低于男性;女性的间质纤维化与肾小管萎缩及球性硬化更重于男性,根据病理结果推测女性进展至肾功能不全的速度可能要快于男性,预后差于男性。     

宫颈原发Ewing肉瘤一例

发生于宫颈的Ewing肉瘤极为罕见,其恶性程度高、病情进展快。诊断主要依据病理学及免疫组织化学。本例主要影像表现为宫颈囊实性占位,体积较大,密度、信号不均,增强扫描实性部分可强化。因其增长迅速,病灶内易形成液化坏死及出血。本病早期易发生转移,及时诊断评估很重要。     

Reversible Posterior Leukoencephalopathy Syndrome in Children with Nephrotic Syndrome:a Case Report

REVERSIBLE posterior leukoencephalopathy syn- drome （RPLS） is a rare neurological syndrome charac- terized by headache, altered mental status, seizures, and visual disturbance,associated with reversible white matter cnanges,- n been commonly reported in patients with severe hypertension and pre-eclampsia. Here we report a case with nephrotic syndrome complicated by RPLS.     

Renal Amyloidosis Secondary to ANCA-Associated Vasculitis: A Case Report

Renal amyloidosis secondary to anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis is extremely rare. Here, we reported a 77-year-old woman with ANCA-associated vasculitis. Renal biopsy with Masson trichrome staining showed pauci-immune crescentic glomerulonephritis, and electron microscopy showed amyloid deposition in the mesangial area. Immunofluorescence revealed kappa light chain and lambda light chain negative. Bone marrow biopsy revealed no clonal plasma cell. Finally, she was diagnosed as ANCA-associated vasculitis with secondary renal amyloid A amyloidosis.     

Disease phenotype and diagnostic delay in Saudi patients with primary Sjögren’s syndrome: An exploratory cross-sectional study

Objectives:To describe primary Sjögren’s syndrome (pSS) cohort in Saudi Arabiain view in of clinical/serological/histopathological phentotype, and, diagnostic delay.Methods:A cross-sectional study conducted between October 2018 and May 2019. Diagnostic delay was calculated from symptoms onset to clinical diagnosis. The European League Against Rheumatism (EULAR) Sjögren’s Syndrome Disease Activity Index (ESSDAI) and EULAR Sjogren’s Syndrome Patient Reported Index (ESSPRI) were calculated.Results:Forty-one patients were included in the study. There were predominantly females (78%) with a mean (±SD) age of 58.76±12.7 and disease duration of 4.6±2.28 years. The mean diagnostic delay was 2.2±2.4 (range 1-11) years. Minor salivary gland biopsy was performed on 38 (92.7%) patients with a mean focus score of 2.3± 1.2 points. Interstitial lung disease and arthritis were the most common extra-glandular manifestations (EGM) affecting 27 (65.9%) patients for both. The mean ESSDAI was 9.95±7.73 and ESSPRI was 5.17±2.4.Conclusion:Saudi primary Sjogren’s syndrome patients have a high prevalence of EGM predominantly arthritis and ILD. The diagnostic delay is variable in our cohort.     

先天性肾病综合征并脑梗死一例

先天性肾病综合征是新生儿在出生3个月内出现大量蛋白尿、水肿、低蛋白血症的肾病综合征表现.可分为继发性和原发性.继发性多继发于围生期感染,原发性多与基因突变有关.本文报道的此例新生儿倾向于原发性,且同时合并脑梗死,临床上较少见.笔者旨在通过对其临床表现、实验室检查及影像学检查结果的分析,加强临床医师对该病的认识.     

成年人原发性肾病综合征的不同病理类型对泼尼松的治疗反应

目的 明确成年人原发性肾病综合征的常见病理类型及对泼尼松的治疗反应。方法 对220例原发性肾病综合征患者进行了经皮肾穿刺病理检查并给予泼尼松口服治疗10周，通过测定治疗前后24h尿蛋白定量及血浆白蛋白的变化评价治疗效果。结果 成年人原发性肾病综合征的常见病理类型为：系膜增生性肾炎、膜增生性肾炎、轻微肾小球病变、膜性肾病、局灶性节段性硬化。泼尼松治疗10周后总有效率为63％。结论 原发性肾病综合征对泼尼松的治疗反应与病理类型及是否合并肾小管损伤有关。     

甘露聚糖肽对儿童单纯性肾病综合征继发感染的预防作用

目的：观察甘露聚糖肽对小儿单纯性肾病综合征（SNS）继发感染的预防作用。方法：102例初治SNS患儿随机分为治疗A组（36例）、B组（35例）和对照组C（31例）。三组均采用泼尼松中程疗法，治疗A组在此基础加用甘露聚糖肽片硒服、B组加用黄芪注射液。观察患儿8周内缓解率、6个月继发感染率、肾病复发率及用药前和用药6个月血浆IgG,IgA、IgM的变化。结果：三组8周内缓解率无统计学差异；继发感染率和复发率治疗各组均显著低于对照组；感染后治愈天数治疗各组也显著少于对照组。用药6个月后治疗各组血浆IgG上升，显著高于用药前和对照组；血浆IgA、IgM治疗各组与对照组无统计学差异（见表2）。结论：甘露聚糖肽具有降低SNS患儿继发感染、减少复发的作用，改善了因长期使用激素所致的免疫功能低下。     

Takotsubo cardiomyopathy in a bedridden patient with dementia and communication difficulties due to Alzheimer’s disease

Takotsubo cardiomyopathy is a transient wall motion abnormality of the left ventricular apex, accompanied by emotional or physical stress. Although Takotsubo cardiomyopathy is generally considered a benign disease, severe clinical complications may occur, and early detection of the disease is important. In this report, we present the case of an 86-year-old bedridden woman with a history of bronchial asthma who was transferred to our hospital because of wheezing. She was diagnosed with Alzheimer’s disease and had communication difficulties. After an asthma attack and improvement, Takotsubo cardiomyopathy was identified via electrocardiography. She was unable to complain of any symptoms but showed serial electrocardiographic changes, elevated myocardial markers, and transient left ventricular apical ballooning. The prevalence of dementia increases dramatically with age. This case indicates that Takotsubo cardiomyopathy may occur even in patients with severe dementia, who are bedridden and show communication difficulties in a clinical setting.     

Fibronectin Glomerulopathy Caused by the Y973C Mutation in Fibronectin:A Case Report and Literature Review

Fibronectin glomerulopathy is a rare autosomal dominant inherited glomerular disease associated with massive deposition of fibronectin. We recently diagnosed fibronectin glomerulopathy in a 29-year-old woman presenting nephrotic syndrome. Genetic analysis of fibronectin 1 gene showed heterozygosity for the Y973C mutation. However, this mutation was not found in her parents. She had stable renal function but persistent nephrotic proteinuria after one-year follow-up.