原发性高尿酸血症患者发生痛风的前瞻性研究

目的 明确原发性高尿酸血症(HUA)患者发生痛风的危险因素.方法 对2004年山东沿海流行病学调查和本院健康体格检查高尿酸血症患者随访3年,主要观察指标为是否发生痛风,评估膳食因素对痛风发生的影响和患者血生化指标变化.结果 536例HUA患者,102例发生痛风,发生率为19%.年龄(OR=1.046,P＜0.05)、血尿酸(OR=1.021,P＜0.05)、空腹血糖(OR=1.021,P＜0.05)、甘油三酯(OR=1.008,P＜0.05)、蟹贝类摄入量(OR=5.992,P＜0.05)和啤酒摄入量(OR=1.012,P＜0.05)是HUA患者发生痛风的危险因素.结论 HUA患者蟹贝类、啤酒等过量摄入造成血尿酸波动是发生痛风的主要危险因素.调整糖脂代谢紊乱、减少高嘌呤食物摄入、控制血尿酸水平是减少痛风发作的重要措施.

Abstract：

Objective To determinate the risk factors of gout in patients with hyperuricemia.Methods Patients detected with hyperuricemia both in epidemiological survey of Shandong coastal areas in 2004 and in health examination of our hospital were followed up for three years to observe the incidence of gout, relationship of diet and gout, and changes of biochemical indicators.Results During 3 years, 102 patients (19%) out of 536 patients with hyperuricemia developed gout. Age(OR=1.046, P＜0.05), serum uric acid(OR=1.021, P＜0.05), fasting plasma glucose(OR=1.021, P＜0.05), triglyceride(OR=1.008, P＜0.05), tony crab intake ( OR=5.992, P＜0.05),and beer intake(OR=1.012, P＜0.05) were the risk factors of gout attack in patients with hyperuricemia.Conclusions Excess intake of tony crab and beer resulting in fluctuation of serum uric acid is the main risk factor of gout in patients with hyperuricemia. Correcting metabolic disorder of glucose and lipid, reducing the intake of high-purine food, and controlling the level of serum uric acid are the measures to reduce gout attack.     

高尿酸血症防治中应关注的几个关键问题

随着人们生活水平的提高和饮食结构的改变,高尿酸血症及其相关疾病的发病率急剧上升.由于多数患者处于无症状高尿酸血症状态,故尚未引起患者和医务工作者的重视.本文就高尿酸血症与痛风、肾损害、糖代谢紊乱、动脉粥样硬化性疾病的关系及其预防进行评论,以期提高广大临床医师对高尿酸血症的认识及对该病防治的重视.

Abstract：

The incidence of hyperuricemia and relevant diseases has been increasing recently since the living improvement and dietary changing. Both patients and doctors do not pay enough attention to this disease, due to the lack of obvious clinical presentations in early stage. This paper comments on the relationship between hyperuricemia and gout, gouty nephropathy, impaired glucose metabolism,and atherosclerotic diseases in order to arouse enough attention to this disease.     

新疆汉、维吾尔、哈萨克族成年人高尿酸血症及痛风的流行病学调查

应用四阶段整群随机抽样法,在新疆地区调查了13 559名汉、维吾尔、哈萨克族成年人的高尿酸血症及痛风患病率.汉、维吾尔、哈萨克族高尿酸血症标化患病率分别为11.00%、3.27%和3.94%;痛风患病率分别为1.32%、0.65%和0.70%,差异均有统计学意义(均P＜0.05).非条件logistic回归分析显示,维吾尔族及哈萨克族患高尿酸血症的风险较汉族低;体重指数、肾功能及血脂为高尿酸血症的危险因素;女性及体力活动为保护因素.食海鲜及动物内脏是汉族患高尿酸血症的独立危险因素,食动物内脏及饮酒是哈萨克族的独立危险因素.

Abstract：

Four-stage selected random samples were used to analyze the prevalence and distributing feature of hyperuricemia and gout in 13 559 Han,Uighur,and Hazakh adults in Xinjiang. The prevalence of hyperuricemia was 11.00%,3.27%,and 3.94% respectively in Han,Uighur,and Hazakh populations,and 1.32%, 0.65%,and 0.70% for gout,with statistically significant difference among three groups(all P＜0.05). No-conditional logistic regression analysis showed that nationality,body mass index,renal function,and serum lipid were risk factors of hyperuricemia,while female and physical activity were protective factors. Eating seafood and animal visceral organs were independent risk factors of hyperuricemia in Han population. Eating animal visceral organs and drinking alcohol were independent risk factors of hyperuricemia in Hazakh population.     

中国沿海地区汉族男性人群白细胞介素-1β-31C/T基因多态性与痛风的易感性研究

目的 探讨山东省沿海地区中国汉族男性群体的白细胞介素(IL)-1β启动子区rs1143627(-31C/T)基因多态性的分布状况及其与痛风易感性之间的关系.方法 选取208例痛风患者和210名健康对照者,应用聚合酶链反应限制性片段长度多态性(RFLP)技术,检测中国汉族男性群体的IL-1β启动子区rs1143627(-31C/T)位点基因多态性与痛风发病的遗传易感性的关系.采用Hardy-Weinberg检验确认标本的群体代表性,数据分析采用χ2检验和t检验.结果 痛风组中IL-1β启动子区-31C/T位点CC,CT和TT基因型分别为32.7%,43.3%和24.0%,健康对照组分别为31.9%,46.2%和21.9%,2组比较差异无统计学意义(χ2=0.427,P>0.05);2组的等位基因频率C和T间差异也无统计学意义(分别为54.3%,55.0%;45.7%,45.0%;χ2=0.038,P>0.05).经χ2检验,IL-1β基因-31C/T位点基因多态性与痛风病的危险因素无显著性关联.结论 尚不能认为中国沿海地区汉族男性人群中IL-1β启动子区rs1143627(-31C/T)基因多态性与痛风有关联性.

Abstract：

Objective To explore gene polymorphism of the C/T genotype of rs1143627 in the promoter of IL-1β gene in male population living in the coastal area of Shandong, and thus to investigate the relationship between the gene polymorphism of IL-1β and gout. Methods A total of 208 gout patients and 210 healthy controls were enrolled. The possible association between the polymorphism of IL-1 β -3 1C/T and gout in Chinese were investigated and genotype frequencies and allelic frequencies was calculated by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) method. Hardy-Weinberg was used to verify the representativeness of the sample. Comparisons between the groups were performed with χ2 test and t-test. Results The frequencies of CC, CT, and TT genotypes were 32.7%, 43.3% and 24.0%,respectively among gout patients, while they were 31.9%,46.2% and 21.9%, respectively among the controls.There was no statistically difference in IL-1β -31C/T genotype frequencies between gout patients and controls (χ2=0.427, P>0.05). The allele frequencies of C and T in gout cases were different from those in the controls (54.3%, 55.0%; 45.7%, 45.0%; χ2=0.038, P>0.05). Moreover, no association between IL- I β-31 C/T genotypes and risk factors for gout were observed in gout cases by χ2 test. Conclusion Results of the present study suggest that the C/T genotype of rs1143627 in the promoter of IL-1β gene is not associated with gout in male population living in the coastal area of Shandong.     

Association of BCAS3 rs11653176 gene polymorphism with the occurrence of gout

正Objective To explore the relationship between the polymorphisms of the primary gout predisposing gene(BCAS3)rs11653176 locus and the incidence of gout in Han Chinese men in coastal areas of Shandong Province.Methods One hundred and fifty-two cases of patients with gout remission,68 cases of acute stage,252patients with hyperuricemia,and 280 healthy subjects,     

山东沿海居民高尿酸血症及痛风五年随访研究

目的 与2004年结果相比较,明确目前山东沿海地区20岁以上居民高尿酸血症(HUA)与痛风的患病情况及其影响因素.方法 采用随机(随机数字表法)、分层、整群抽样的方法,入户调查青岛、烟台、威海、日照、东营5 191名长住居民HUA与痛风的患病情况.结果 (1)与2004年相比,2009年无论男性还是女性,人群整体血尿酸水平均有增高趋势.(2)按照统一人口标化后,2009年HUA患病标化率为16.99%,比2004年增加3.72%;其中男性增加4.57%、女性增加3.33%.(3)痛风患病标化率为1.36%,比2004年增加0.26%;其中男性降低0.45%,女性增加0.85%.(4)与2004年比较,目前30岁以下男性人群的HUA患病率最高,50~岁年龄组为最低.同样30岁以下女性人群中HUA患病率也较2004年明显增高,70~岁患病率最高.(5)与2004年相比,男性痛风患病率40~岁年龄组为最高.女性30岁以下年龄组较2004年明显增加,70~岁患病率最高.(6)logistic回归分析显示每日海产品摄入量、肉类产品摄入量、啤酒和烈酒摄入量均为HUA和痛风独立危险因素.结论 与2004年相比,人群整体血尿酸水平、HUA和痛风患病率均有增高趋势,且呈明显年轻化,以女性增加显著;膳食因素对HUA和痛风发病有明显影响,海产品、肉类产品、啤酒和白酒每日摄入量为HUA独立危险因素.

Abstract：

Objective To determine the prevalence and risk factors of hyperuricemia (HUA) and gout among residents aged≥20 years in Shandong coastal areas compared with the results of 2004. Methods A randomized stratified cluster sampling was conducted, and 5 191 inhabitants were investigated for prevalences of HUA and gout in Qingdao, Yantai, Weihai, Rizhao, and Dongying. Results (1)The level of serum uric acid had the tendency to increase in both males and females in 2009 compared with that in 2004. (2)According to the uniform population standardization, the standardized prevalence of HUA was 16.99%in 2009. The standardized rate increased by 3.72%compared to 2004, being 4.57%in males and 3.33%in females. (3) The standardized prevalence of gout was 1.36%. Compared with that in 2004, the standardized rate increased by 0.26%, decreased by 0.45%in males while increased by 0.85%in females. (4) Compared to 2004, the prevalence of HUA among males aged≤30 years was the highest, whereas aged between 50 years and 60 years was the lowest at present. (5) Currently, the prevalence of HUA among females aged≤30 years was significantly higher than that of 2004, and aged≥70 years was the highest. (6) Logistic regression analysis showed that the amount of daily intake of seafood, meat, beer, and liquor were independent risk factors of HUA and gout. Conclusions Compared to 2004, the level of serum uric acid and the prevalence of HUA and gout show a tendency to increase among younger in the population surveyed in 2009, significant in female. Dietary factors exert significant effects on the development of HUA and gout. The amount of daily intake of seafood, meat, beer, and liquor are independent risk factors of HUA and gout.     

痛风的影像学研究进展

影像学检查可以帮助临床医师评价痛风.X线成像只能显示慢性痛风进展期的典型变化.CT可能是评价痛风骨改变和痛风石的最好方法,双源CT可以评估全身周围关节的尿酸盐总沉积量.MRI适合评估软组织、滑膜厚度和炎性反应,对痛风的早期病变敏感性很高,也能够较好的显示痛风石.超声检查可以评价软骨、软组织、尿酸盐沉积和滑膜炎性反应.核医学有助于在细胞和分子层面理解痛风性关节炎的发病机制.

Abstract：

Imaging is a helpful tool for clinicians to evaluate gout. Plain radiographs show typical changes only in advanced chronic gout. Computed tomography may best evaluate bone changes and tophi. Dual energy CT can measure the total urate burden in general periphery joints. Magnetic resonance imaging is suitable to evaluate soft tissues,synovial membrane thickness,and inflammatory changes,which is also sensitive to early change of gout,and even well show the tophi. Ultrasonography may be used in evaluation of cartilage, soft tissues, urate crystal deposition, and synovial membrane inflammation. Nuclear medicine may be helpful to investigate the pathogenesis of gouty arthritis in the field of cell and molecule.     

老年人痛风诊疗进展

<正>痛风(gout)是一种最常见的晶体沉积型疾病。目前认为,尿酸排泄减少和(或)嘌呤代谢紊乱可引起高尿酸血症(hyperuricemia,HUA),持续升高的尿酸超过单尿酸盐沉积的饱和度(约404μmol/L或6.8 mg/dl),会造成尿酸盐结晶沉积至关节等部位。因此痛风又称为代谢性关节炎(metabolic arthritis),属于代谢性风湿病范畴~([1])。1痛风流行病学流行病学调查显示,美国成人痛风发病率约为1%~2%,男性发病率为5.9%,女性为2%。欧洲成人     

基因技术辅助诊断原发性色素性结节样肾上腺病一例

原发性色素性结节样肾上腺病(primary pigmentednodularadrenal disease,PPNAD)为常染色体显性遗传.本研究中的患者临床表现为库欣综合征,各项临床指标和病理诊断明确.目前已证实:两个相关基因PRKAR1A和PDE11A突变分别是是导致PPNAD的原因,但本研究结果显示以上两个基因均无突变,提示可能为肾上腺结节病又一类新的发病机制.

Abstract：

Primary pigmented nodular adrenal disease (PPNAD) is a kind of autosomal dominant inherited disease. Patient in the study presented with Cushing's syndrome, and clinical and pathological diagnosis of PPNAD was confirmed. It is now confirmed that there are two relevant genes and their mutations may lead to PPNAD. This study showed no mutations in the patient, surpecting if there would be an alternative mechanism or a new gene in playing the role.     

Glycogen storage diseases： New perspectives

Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. Different hormones, including insulin, glucagon, and cortisol regulate the relationship of glycolysis, gluconeogenesis and glycogen synthesis. The overall GSD incidence is estimated 1 case per 20 000-43 000 live births. There are over 12 types and they are classified based on the enzyme deficiency and the affected tissue. Disorders of glycogen degradation may affect primarily the liver, the muscle, or both. TypeⅠa involves the liver, kidney and intestine (andⅠb also leukocytes), and the clinical manifestations are hepatomegaly, failure to thrive, hypoglycemia, hyperlactatemia, hyperuricemia and hyperlipidemia. Type Ⅲa involves both the liver and muscle, and Ⅲb solely the liver. The liver symptoms generally improve with age. Type Ⅳ usually presents in the first year of life, with hepatomegaly and growth retardation. The disease in general is progressive to cirrhosis. Type Ⅵ and Ⅸ are a heterogeneous group of diseases caused by a deficiency of the liver phosphorylase and phosphorylase kinase system. There is no hyperuricemia or hyperlactatemia. Type Ⅺ is characterized by hepatic glycogenosis and renal Fanconi syndrome. Type Ⅱ is a prototype of inborn lysosomal storage diseases and involves many organs but primarily the muscle. Types Ⅴ and Ⅶ involve only the muscle.     

膳食营养与高尿酸血症和痛风的关系

饮食治疗在高尿酸血症及痛风的作用已被研究证实,随着研究的不断深入,传统的低蛋白、低嘌呤治疗观念正逐步被更新.高尿酸血症及痛风患者常合并高血压、心血管疾病等,因此饮食治疗不仅应控制食物种类,还要进行饮食结构的调整,以便在高尿酸血症及痛风得到缓解的同时降低伴发疾病的风险.     

Hyperuricemia and associated diseases

After introduction of urate-lowering therapy, asympotomatic hyperuricemia was treated with allopurinol or uricosuric agents in the belief that hyperuricemia and/or gout caused chronic kidney disease. Epidemiologic studies in the 1970s, however, failed to confirm the view that hyperuricemia and gout were independent risk factors for chronic kidney disease. As a result, urate-lowering pharmacotherapy is generally not recommended at the present time in the management of asymptomatic hyperuricemia even though recent epidemiological, experimental, and clinical studies have prompted reexamination of a causal role for hyperuricemia (with or without gout) in chronic kidney disease as well as other important disorders including cardiovascular disease, hypertension, and metabolic syndrome. The issue of such a role remains unresolved and this article reviews the current status of the relationship between hyperuricemia and associated disorders.     

Hyperuricemia and gout

Gout is not a new disease for clinicians; nevertheless, there are still many secrets awaiting discovery for improving knowledge with respect to uric acid metabolism and monosodium urate crystal-induced inflammation. This review of the literature will focus on new insights on the pathogenesis of idiopathic hyperuricemia, and on secondary hyperuricemia and gout. There are also important advances on the pathophysiology of acute gout, especially as a self-limited process (switch from monocyte to macrophage, peroxisome proliferator activated receptor-gamma, and nitric oxide), but also of chronic gouty arthropathy. Armaments for treating hyperuricemia and gout may be already improved by losartan or fenofibrate and, in the future, by urate oxydase-polyethylene glycol 20 and renal handling regulatory molecules. Finally, control of hyperuricemia may also be considered in the prevention and treatment of cardiovascular disease.     

高尿酸血症/痛风流行病学特点及危险因素

高尿酸血症/痛风的患病率逐年攀升,呈现高流行、年轻化、男性高于女性、沿海高于内地的流行趋势.肥胖、高血压、高血脂、高血糖等与高尿酸血症/痛风的发生、发展密切相关.小剂量阿司匹林、袢利尿剂和噻嗪类利尿剂等药物亦可促进血清尿酸水平的升高.高尿酸血症是2型糖尿病、高血压、动脉粥样硬化、心血管事件、脑卒中和慢性肾脏病等疾病的独立危险因素,是痛风发作的最主要生化基础和最直接病因.对于高尿酸血症/痛风患者,应强调早期发现和早期治疗.     

高尿酸血症与痛风患者并发肾结石的影响因素

目的收集高尿酸血症及痛风患者的临床资料及生化结果,分析高尿酸血症及痛风患者并发肾结石的危险因素。方法收集安徽省立医院门诊和住院及体检中心的痛风患者82例及高尿酸血症患者178例进行对照研究,所有患者统一问卷调查,收集一般资料及实验室检查数据,均进行双肾、输尿管、膀胱B超;采用组间对照及二元Logistic回归方法进行统计学分析。结果痛风组与高尿酸血症组肾结石发生率分别为36.6%和27.5%,两组比较差异无统计学差异(P>0.05)。痛风并发肾结石组相比痛风无肾结石组身高更高、体质量更重、病程更长、低密度脂蛋白(LDL)较高(P<0.05)。Logistic回归分析显示:病程>9年[OR=23.493,95%CI(2.824~195.421),P=0.003]、LDL≥4.1 mmol/L[OR=10.160,95%CI(1.218~84.747),P=0.032]是痛风患者发生肾结石的危险因素;痛风并发肾结石组相比高尿酸血症并发肾结石组有吸烟史、饮酒史的比例更高(P<0.05);所有高尿酸血症患者并发结石组相比高尿酸血症无肾结石组的体质量更重,BMI更高,舒张压更高(P<0.05)。结论高尿酸血症与痛风患者均有较高的肾结石发生率。病程>9年、LDL≥4.1 mmol/L是痛风患者肾结石发病的独立危险因素。高体质量及高体质量指数的痛风/高尿酸血症患者更应注意进行泌尿系结石的筛查以利于早期发现肾结石并及时治疗。     

Aspiration of the asymptomatic metatarsophalangeal joint in gout patients and hyperuricemic controls

Asymptomatic metatarsophalangeal joints were aspirated in a group of patients with gout, in 2 control groups with hyperuricemia, and in 1 normouricemic control group. Extracellular urate crystals were present in 70% of gout patients, in 1 of 19 patients with asymptomatic hyperuricemia, and in 2 of 9 patients with renal failure and hyperuricemia but no history of joint disease. Crystals were not found in the 10 normouricemic patients who had other types of arthritis. The presence of crystals in the subjects with gout was not correlated with a history of podagra, duration of gout, presence of tophi, or degree of control of hyperuricemia. Though crystals were found on rare occasions in joint fluid of asymptomatic hyperuricemic subjects, the presence of these crystals in asymptomatic joints was more common in subjects with gout.     

Secondary gout in hemoglobinopathies: Report of two cases and review of the literature

Although patients with hemolytic hemoglobinopathies characteristically are over-producers of urate, and hyperuricemia is frequently recognized, clinical gout has rarely been reported in such patients. Our evaluation of 2 premenopausal women with gout led to the diagnosis of previously unrecognized hemoglobinopathies (SC disease and CC disease). Investigation of these 2 patients and review of the reported cases of gout in patients with hemoglobin S or C disorders suggest that relatively minor abnormalities of renal function in these patients may lead to early development of significant hyperuricemia. With increasing lifespan of patients with hemolytic hemoglobinopathies and the likelihood of increased occurrence of renal function abnormalities, it is anticipated that gout will more frequently be responsible for joint symptoms in such patients.     

Genetics of Hyperuricemia and Gout: Implications for the Present and Future

Gout is the most common inflammatory arthropathy and occurs in the setting of elevated serum urate levels. Gout is also known to be associated with multiple comorbidities including cardiovascular disease and the metabolic syndrome. Recent advances in research have increased our understanding and improved our knowledge of the pathophysiology of gout. Genome-wide association studies have permitted the identification of several new and common genetic factors that contribute to hyperuricemia and gout. Most of these are involved with the renal urate transport system (the uric acid transportasome), generally considered the most influential regulator of serum urate homeostasis. Thus far, SCL22A12, SCL2A9, and GLUT9 have been found to have the greatest variation and most influence on serum urate levels. However, genetics are only a part of the explanation in the development of hyperuricemia and gout. As results have been mixed, the role of known urate influential genes in gout’s associated comorbidities remains unclear. Regardless, GWAS findings have expanded our understanding of the pathophysiology of hyperuricemia and gout, and will likely play a role in the development of future therapies and treatment of this ancient disease.     

Asymptomatic hyperuricemia: the case for conservative management

The management of asymptomatic hyperuricemia is controversial. Reported benefits from treatment prevention of acute gouty arthritis, chronic tophaceous gout, urolithiasis, or gouty nephropathy. A review of experimental and clinical data suggests that the risks of asymptomatic hyperuricemia are small or unknown and the efficacy of long-term treatment in preventing gout or renal disease is unproved. The costs and risks of prolonged drug administration and practical considerations such as patient compliance mitigate against long-term therapy in asymptomatic persons. We offer some recommendations for an expectant approach to the management of asymptomatic hyperuricemia.     

原发性高尿酸血症和痛风分子遗传学研究进展

近年来原发性高尿酸血症和痛风的发病率逐年上升,高尿酸血症为痛风的早期阶段,长期高尿酸血症除易诱发痛风外,尚易累及肾脏和心脑血管系统,导致严重的肾脏及心脑血管疾病,但其遗传模式和易感基因尚不清楚。近年来的研究发现,嘌呤代谢过程中关键酶的缺陷及4个尿酸盐转运蛋白基因变异与高尿酸血症和痛风相关。本文对高尿酸血症和痛风的遗传模式、相关的易感基因及其染色体定位进行综述。