Disappearance of Tophi in Familial Juvenile Hyperuricemic Nephropathy after Kidney Transplantation

A 40-year-old man who had been on hemodialysis for 25 months due to familial juvenile hyperuricemic nephropathy (FJHN) received a kidney transplant. Biopsy of his native kidney had shown tubulo-interstitial nephropathy. Genetic analysis confirmed abnormal uromodulin expression due to a mutation in the exon 4 of the UMOD gene. He had multiple tophi on the day of transplantation, including some on his fingers. He received immunosuppressive treatment including polyclonal antilymphocyte antibodies, mycophenolate mofetil, steroids and cyclosporine and achieved excellent renal function, with serum creatinine at 13 mg/L on day 10 posttransplantation and 9.4 mg/L at 6 months. His uric acid excretion rate increased from 4.4% at day 2 posttransplantation to 7.7% 6 months after transplantation. The number and sizes of the tophi were reduced 3 months posttransplantation, and nearly disappeared at month 6. Serum uric acid level decreased slowly from 650 mumol/L before transplantation to 300 mumol/L. Reduction of tophi was probably due to the absence of the mutated UMOD gene in the transplanted kidney.     

Pharmacological basis for use of madecassoside in gouty arthritis: anti-inflammatory,anti-hyperuricemic,and NLRP3 inhibition

Objectives: Gouty arthritis is caused by the deposition of monosodium urate (MSU) crystals in joints, which is associated with the rise of serum urate content. This study aims to investigate the therapeutic effect of Madecassoside on gouty arthritis and hyperuricemia.

Methods: DBA/1 mice were intradermally injected with MSU to stimulate joint inflammation or intraperitoneally injected with MSU to trigger peritonitis. Moreover, ICR mice were exposed to potassium oxonate to stimulate hyperuricemia.

Results: Madecassoside repressed MSU-triggered pad swelling, joint 99mTc uptake, and joint inflammation in DBA/1 mice with gouty arthritis. Neutrophil infiltration and IL-1β & IL-6 & MCP-1 secretion was also alleviated in lavage fluids from DBA/1 mice with peritonitis due to Madecassoside treatment. Furthermore, Madecassoside decreased MSU-induced neutrophil cytosolic factor 1, caspase-1 and NLRP3 expression in mice with peritoneal inflammation. In hyperuricemic mice, Madecassoside improved renal dysfunction. Serum uric acid, BUN, and creatinine were down-regulated by Madecassoside.

Conclusion: These findings indicate that Madecassoside has potential to ameliorate inflammation in both acute gouty arthritis model and peritonitis model, probably via regulating IL-1β and NLRP3 expression.

Practical point: Madecassoside also exhibited a urate-lowering effect and a renal protective effect in hyperuricemic mice.     

西藏民族大学新生血尿酸水平及高尿酸血症相关因素分析

目的了解西藏民族大学入学新生的血尿酸(SUA)水平和高尿酸血症(HUA)的影响因素。方法于2018-09对西藏民族大学2018级1996名16~24岁汉、藏族新生进行体格检查及SUA等血液生化指标检测。结果2018年入学新生中,汉族学生HUA检出率为20.34%,藏族学生为16.76%,汉族HUA检出率高于藏族(P<0.05);汉、藏族SUA水平及两民族女性SUA水平差异无统计学意义(P>0.05),但汉族男性SUA水平(393.09±81.94)μmol/L高于藏族男性的(380.88±71.31)μmol/L(P<0.05)。HUA组中汉族学生超重肥胖、HBP检出率高于藏族,藏族学生高血红蛋白检出率高于汉族(P<0.05);多因素Logistic回归分析显示汉族学生HUA发生的危险因素有男性(OR=2.036,95%CI:1.420~2.918)、超重肥胖(OR=2.784,95%CI:1.840~4.212)、高血脂(OR=2.721,95%CI:1.552~4.770)、肝功能异常(OR=1.924,95%CI:1.075~3.441)及高血压(OR=2.184,95%CI:1.115~4.277),均有统计学意义(P<0.05)。藏族学生HUA发生的危险因素有男性(OR=3.168,95%CI:2.225~4.510)、超重肥胖(OR=2.846,95%CI:1.739~4.656)、高血脂(OR=2.240,95%CI:1.157~4.339)、肝功能异常(OR=1.887,95%CI:1.125~3.165)、肾功能异常(OR=3.201,95%CI:1.162~8.822)及高血红蛋白(OR=2.814,95%CI:1.428~5.544),均有统计学意义(P<0.05)。结论汉族学生HUA检出率明显高于藏族学生,HUA与性别、BMI、血压、血脂、血糖、血红蛋白及肝、肾功能异常密切相关,汉、藏族分别有其突出的危险因素。     

基于《指南》的痛风及高尿酸血症基层防治策略探讨

高尿酸血症是临床常见的代谢性疾病,也是诱发痛风的重要生化基础及直接致病因素。发挥基层社区卫生服务机构的全科团队优势,通过个性化慢性病管理模式,可以有效减少痛风的发生与复发,改善痛风及高尿酸血症患者生活质量,并提升患者自我管理能力。该研究以最新《痛风及高尿酸血症基层诊疗指南》为参照,从此病基层诊断要点、管理特点、分级诊疗、规范用药、社区综合干预等要素探讨基层防治策略,提升基层医院慢性病防治水平。     

10140例肾结石患者临床合并症及相关因素分析

目的 评估肾结石患者的人口学分布和临床合并症特点并探索其相关因素,为临床防治提供依据。方法 回顾性分析2017年1月至2020年12月海军军医大学附属长海医院门诊及住院患者中影像学报告为肾结石的10140例患者。根据受累肾脏情况,分为单侧肾结石组(单侧组)及双侧肾结石组(双侧组),分析两组人群在年龄、性别、实验室检查、常见临床合并症上的差异,采用logistic回归探寻可能影响双侧肾结石形成的相关因素。结果 10140例肾结石患者的平均年龄为57.75±13.30岁,男女比例为2.25:1。其中单侧组8171例（80.6%）,双侧组1969例（19.6%）。所有肾结石患者最常见的临床合并症依次为高血压病(HT)、肿瘤、高尿酸血症、糖尿病(DM)、冠心病(CHD)、脑血管疾病。两组在年龄、性别的分布,以及HT、肿瘤、高尿酸血症、CHD的合并率方面差异有统计学意义(P<0.05);而在体重指数(BMI)、DM、脑血管疾病的合并率方面差异无统计学意义(P>0.05)。实验室检查方面,单侧组血清肌酐(Cr)、尿酸(UA)、尿pH值水平低于双侧组(P<0.05);而高密度脂蛋白胆固醇(HDL-C)水平高于双侧组(P<0.05);空腹血糖(FPG)、甘油三酯(TG)、胆固醇(TC)、低密度脂蛋白胆固醇(LDL-C)水平方面两组之间差异无统计学意义(P>0.05)。此外,性别(男性)、高尿酸血症可能是双侧肾结石形成的重要相关因素(P<0.05),而合并肿瘤则更倾向于表现为单侧肾结石患者(P<0.05)。结论 肾结石更多见于中年男性,代谢综合征相关疾病在肾结石的发展过程扮演了重要角色,有必要加强这些疾患的早期防治。肾结石患者肿瘤合并率高,提示两者存在关联。此外,较单侧肾结石而言,男性、合并高尿酸血症与双侧肾结石形成关系更密切,应当引起重视。     

老年高尿酸血症患者立加利仙应用的探讨

目的评价小剂量立加利仙治疗老年高尿酸血症患者的有效性和安全性。方法选择30例老年肾脏尿酸排泄减少的原发高尿酸患者作为研究对象,10例血尿酸正常的老年人作为基线对照。每日给予25 mg立加利仙,疗程一周。计算肌酐清除率(Ccr)、24 h尿尿酸(24h Uur)、尿酸清除率(Cur)、尿酸清除分数(FRUAC)、单位肾小球滤过率尿酸排出(EurGFCur)、尿尿酸与尿肌酐比值(Uur/Ucr)。结果治疗一周后,高尿酸患者平均Sur从8.48±1.52 mg/dl降低至4.98±1.53 mg/dl,24h Uur、Cur、FRUAC、EurGFCur、Uur/Ucr均显著增加(P<0.01),同时Ccr无明显变化,肾脏尿酸负荷(Flur)明显减少(P<0.001)。不同Ccr水平患者24h Uur增加百分数和Sur降低百分数无显著差异(P>0.05)。无不良反应发生。结论对轻度肾功能减退老年患者,立加利仙可促进尿酸排泄,显著降低血尿酸水平。短时间应用未见不良反应。     

Allopurinol-Induced Recurrent DRESS Syndrome: Pathophysiology and Treatment

Hyperuricemia is present in approximately 5% of the population. The vast majority is asymptomatic and at no clinical risk. Allopurinol, an analog of hypoxanthine, has been widely used in clinical practice for more than 30 years for the treatment of hyperuricemia and gout. Two percent of patients develop a mild exanthema when on this drug, which usually resolves after withdrawal of the drug. A syndrome characterized by exfoliative dermatitis, hepatitis, interstitial nephritis, and eosinophilia, termed allopurinol hypersensitivity syndrome, has been described, and its etiology related to the accumulation of one of allopurinol's metabolites, oxypurinol, of which clearance is decreased in the setting of renal insufficiency and the use of thiazide diuretics. The term DRESS (Drug Rash with Eosinophilia and Systemic Symptoms) Syndrome has been recently used to describe an entity presenting with similar features.