一个原发性痛风家系致病易感基因染色体定位

目的 对一原发性痛风家系进行致病基因的染色体定位。方法 收集痛风家系成员的临床资料及血液样本。选择其中一典型家系为研究对象（包括6例患者，9例正常人），抽提外周血基因组DNA，进行全基因组扫描和连锁分析，初步明确致病基因所在的染色体区段。结果 在微卫星引物D4S1572处获得最大LOD值（θ=0．00时LOD=1．50），表明该痛风家系的致病基因与该位点连锁。结论 由于D4S1572位于4q25，因此该家系致病基因位于4q25附近。     

痛风伴微量白蛋白尿患者胰岛素抵抗与红细胞膜胰岛素受体的关系

目的 探讨痛风伴微量白蛋白尿患者胰岛素抵抗与红细胞膜胰岛素受体的关系。方法 观察106例痛风患者，按是否合并微量白蛋白尿（MAU），将其分为MAU组和正常MAU组（NMAU），测定空腹、餐后2h血糖、胰岛素及空腹血脂、血尿酸（UA），并检测高、低亲和力红细胞膜胰岛素受体数目（R1、R2）和高、低亲和力常数（K1、K2），分析痛风伴MAU患者胰岛素抵抗与红细胞膜胰岛素受体的关系。结果 MAU组空腹胰岛素（FINS）、甘油三酯（TG）、低密度脂蛋白（LDL-c）及胰岛素抵抗指数（HOMA—IR），分别为：（16±4）mU／L、（2．5±0．6）mmol／L、（3．2±0．5）mmol／L和3．6±1．2，正常MAU组分别为（13±3）mU／L、（2．3±0．8）mmol／L、（3．0±0．5）mmol／L及3．0±0．4，上述指标两组间比较差异有统计学意义（P〈0．05）。痛风患者合并MAU红细胞膜胰岛素受体数目（R1）较正常MAU组明显减少，两组间比较差异有统计学意义（P〈0．05）。痛风患者合并MAU的Pearson相关分析结果示：HOMA—IR与年龄、体重指数（BMI）、TG、LDL—c、UA、UAER呈正相关（P〈0．05或P〈0．01），与R1、R2、K1、K2呈负相关（P〈0．05或P〈0．01）。多元线性逐步回归分析提示BMI、年龄、R1是影响痛风合并MAU患者胰岛素抵抗的独立危险因素。结论 痛风合并MAU时存在胰岛素抵抗，且与红细胞膜胰岛素受体数目减少密切相关。     

Excellent response to the clinical treatment of tophaceous gout

Gout continues to be a health problem around the world, and the treatment may turn into a real challenge when the patient presents a certain degree of chronic renal failure (CRF). We discuss a case of tophaceous gout in a 68-year-old male patient without urolithiasis and with uric acid (UA) underexcretion and CRF (creatinine clearance of 42 ml/min). Uricosuric treatment with benzbromarone and urinary alkalinization was administered, and acute gouty attacks improved substantially. Subsequently, allopurinol was added to the treatment to accelerate tophi reduction in the hands, feet, elbows and knees. After 30 months of treatment, serum UA declined from 10 to 3.2 mg/dl. Urinary UA excretion of 0.44 g/24 h in the baseline rose to 0.85 g/24 h, returning to the baseline value after 30 months. UA clearance tripled, rising from 3.05 ml/min before treatment to 9.48 ml/min, and remained at this level. It is worth stressing that even in cases of severe tophaceous gout, the response to clinical treatment may be satisfactory with substantial reduction of tophi and full acute gouty attack remission even in patients presenting a certain degree of CRF.     

Coexistencia de artritis séptica y microcristalina: un reto diagnóstico. A propósito de 25 casos

ObjectiveSeptic arthritis is a medical emergency and crystal-induced arthritis is a risk factor for its development. If both occur simultaneously, crystal-induced arthritis may mask the diagnosis of infection and delay antibiotic therapy.MethodRetrospective analysis of patients with coexistence of septic and crystal-induced arthritis. We included only patients with isolation of crystals in synovial fluid analysis and positive culture of synovial fluid and/or blood culture.ResultsA total of 25 patients (17 men and 8 women) with a mean age of 67 years. The most commonly affected joint was the knee. In synovial fluid cytological studies, the most frequently identified crystals were monosodium urate. Risk factors included diabetes and chronic renal failure. The most frequently isolated germs were methicillin-sensitive S. aureus (48%), methicillin-resistant S. aureus (12%) and Mycobacterium tuberculosis (12%). In all, 36% of subjects required surgical drainage (excluding those caused by M. tuberculosis). Clinical outcome was favorable in 56%, although intercurrent complications were usual (40%). Mortality was 8%.ConclusionsCoexistence of septic and crystal-induced arthritis represents a diagnostic challenge and requires a high index of suspicion. Gout was the most prevalent crystal-induced arthritis. S. aureus was the most commonly causative pathogen, with a high rate of methicillin-resistant S. aureus infection. If treated early, the outcome is usually favorable, making synovial fluid microbiological study imperative.     

原发性痛风患者326例血尿酸、胱抑素C和脂代谢特点分析及其临床意义

目的 了解原发性痛风患者血尿酸（sUA）、血脂及血浆胱抑素C（CysC）的代谢特点,探讨痛风患者易并发心脑血管疾病的可能机制.方法 检测326例原发性痛风性关节炎（GA）患者和210例健康体检者sUA、CysC、胆固醇（TC）、甘油三酯（TG）、高密度脂蛋白胆固醇（HDL-C）、低密度脂蛋白胆固醇（LDL-C）、极低密度脂蛋白（VLDL）、载脂蛋白A1（apoA1）、载脂蛋白B100 （apoB100）、超敏C反应蛋白（hsCRP）浓度并完善血细胞计数,详细收集痛风患者临床资料;比较两组上述指标的差异并分析sUA、CysC与各指标的相关性.结果 痛风组sUA、CysC、hsCRP、WBC、中性粒细胞（GR）、体重指数、TG、TC、VLDL、apoB100、血糖、肌酐和尿素均显著高于正常对照组（P均＜0.01）,而淋巴细胞、HDL则显著低于对照组（P均＜0.01）.痛风组sUA与年龄、WBC、TG、VLDL、肌酐及CysC呈显著正相关（r=0.24、0.27、0.27、0.33、0.25、0.21,P均＜0.05）,与HDL-C呈显著负相关（r=-0.16,P＜0.01）;痛风组CysC与WBC、GR、单核细胞计数、apoA1、血糖、肌酐、尿素、hsCRP呈显著正相关（r=0.26、0.20、0.31、0.22、0.46、0.67、0.63、0.33,P均＜0.05）,与TC、LDL-C呈显著负相关（r=-0.25、-0.27,P均＜0.01）.结论 痛风患者血脂异常特点符合致动脉粥样硬化血脂谱的典型特征.痛风患者易出现脂代谢紊乱、易合并心脑血管疾病,可能与高尿酸血症致血管内皮损伤、平滑肌细胞增殖等血管长期慢性炎症反应有关.CysC可能可作为痛风早期肾功能损害及慢性炎症的判定指标.     

痛风性关节炎的X线诊断

目的总结38例痛风性关节炎的X线表现，探讨痛风性关节炎的X线诊断和鉴别诊断，以提高对本病的认识和诊断准确率。方法对38例确诊为痛风性关节炎的X线表现及病理、临床表现、实验室检查并结合文献进行总结分析。结果痛风性关节炎多发生于四肢小关节，尤以第一跖趾关节为最好发。X线表现主要是软组织偏侧性肿胀，可见散在钙化影；骨质侵蚀性破坏呈穿凿状、蜂窝状缺损，边缘锐利、硬化；关节间隙狭窄，关节面不规整，可发生纤维强直，甚至关节畸形，也可发生半脱位或脱位，可伴有骨质增生，邻近骨质疏松。结论痛风性关节炎的X线表现呈多样化，易与其他单发或多发骨关节病混淆，必须认真分析其X线征象并结合临床表现及实验室检查才能作出正确诊断。     

健脾泄浊法治疗痛风性关节炎对细胞因子IL-18、TGF-β的影响

目的:观察健脾泄浊法治疗痛风性关节炎的临床疗效,并探讨其作用机制。方法:将120例痛风患者随机分为两组。对照组60例,西药予非布司他、秋水仙碱治疗。治疗组60例,在非布司他、秋水仙碱治疗基础上加用健脾泄浊法组方方药加减口服治疗,疗程为12周,观察症状改善情况、发病总时间、发病频次、炎性指标、血尿酸(UA)、24h尿酸(24hUUA)、血脂、生活质量和临床安全性等指标变化情况。结果:治疗组临床疗效总有效率为93.33%,对照组总有效率为86.67%,治疗组明显优于对照组(P<0.01);两组治疗后均能显著降低患者中医证候积分、血沉(ESR)、超敏C反应蛋白(hs-CRP)、白细胞介素-18(IL-18)、血尿酸(UA)水平,升高转化生长因子-β(TGF-β),促进尿酸的排泄,治疗组明显优于对照组(P<0.01或P<0.05);两组治疗后患者的生活质量明显提高,治疗组明显优于对照组(P<0.01或P<0.05);两组比较,治疗组发病总时间明显短于对照组(P<0.05),两组发病频次无统计学意义(P>0.05),可能由于研究时间短,后续将进一步研究;两组比较,治疗组肝功能损害1例、胃肠道反应1例,对照组肝功能损害5例、胃肠道反应22例,两组均无肾功能损害,治疗组安全性明显优于对照组(P<0.01)。结论:健脾泄浊方治疗痛风能有效改善患者症状,提高患者生活质量,降低促炎因子IL-18及炎症指标ESR、hs-CRP水平,升高抑炎因子TGF-β,降低血尿酸及促进尿酸的排泄。健脾泄浊方治疗痛风性关节炎的作用机制可能是通过降低促炎因子IL-18及升高抑炎因子TGF-β水平实现的,尚需进一步研究。     

脂联素及高敏C反应蛋白与原发性高血压合并痛风的关系

目的:探讨高血压合并痛风患者治疗前后血清脂联素(APN)、高敏C反应蛋白(hs-CRP)水平的变化并分析其之间的关系。方法:选择桂林医学院附属医院心内科门诊和住院患者120例,分为高血压合并痛风组60例、高血压组30例、痛风组30例3组。对照组30例为同期我院体检中心健康体检者。采用酶联免疫吸附法(ELISA)测定血清APN,免疫散射比浊法测定血清hs-CRP。结果:高血压合并痛风患者治疗后较治疗前APN升高,hs-CRP降低;高血压合并痛风组APN与hs-CRP呈负相关。结论:高血压合并痛风患者随血压及尿酸水平较低,血清APN升高,炎症标志物hs-CRP降低。     

Validation of Musculoskeletal Ultrasound in the Assessment of Experimental Gout Synovitis

The objective of this study was to validate musculoskeletal ultrasound (US) in a rabbit model of acute gout. Acute gout was induced by intra-articular injection of monosodium urate (MSU) crystals in 10 rabbits; the 3 controls received vehicle. Rabbit knees were assessed by B-mode and power Doppler (PD) US 24 and 72?h after injections. After 72?h, all rabbits were euthanized. US discriminated between the MSU-injected and control groups with respect to the different inflammatory findings at both at 24 and 72?h and for MSU crystal-related findings after 24?h of injection. US synovial thickening, intra-synovial power Doppler signal and global joint distension significantly correlated with the synovial global histopathological score (r?=?0.47, p?=?0.0188), tissue vascularization measured by CD31 immunohistochemical-positive staining (r?=?0.46, p?=?0.0172) and tissue levels of interleukin-1β (r?=?0.53, p?=?0.0078), respectively. US is a valid method for assessment of synovial inflammation in experimental gouty arthritis in rabbits.