原发性高尿酸血症发病机制的研究进展

高尿酸血症和痛风的患病率逐年升高,而且与代谢综合症密切相关,因此对高尿酸血症发病机制的研究日益增多。高尿酸血症是由于尿酸合成增加及/或尿酸排泄减少所引起。长期的高尿酸血症易诱发痛风,还可伴发高血压、肥胖、糖尿病、肾脏疾病及心脑血管疾病等。近年来,尿酸合成增加的机制已基本明确,而导致尿酸排泄减少的分子机制尚不清楚。本文从尿酸合成增加和排泄减少两方面对原发性高尿酸血症的发病机制研究进展进行综述。     

痛风影像学诊断方法分析及发展

痛风是由于尿酸盐沉积产生的异质代谢性疾病,严重者可导致关节残疾引起肾功能损伤,但若能早期诊断该病或可逆转.众所周知,痛风不同时期有不同的临床表现和影像学表现.一般而言,在痛风早期,其双轨征特征明显,特异性高,适合采用超声法进行检测;在痛风反复发作期及慢性期,适合采用X线平片、CT和MRI等影像技术进行检测,其中MRI能...     

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.     

hURAT1、SLC2A9、ABCG2与高尿酸血症、痛风的关系及临床意义

高尿酸血症和痛风与肾脏和心脑血管系统疾病的发生、发展关系密切,近年来发病率呈逐年升高趋势,逐渐引起人们的广泛重视。最近研究发现人尿酸盐转运蛋白1(hURAT1)、尿酸转运子SLC2A9和ABC转运蛋白2(ABCG2)三个尿酸盐转运蛋白的基因变异与高尿酸血症和痛风的发生呈高度相关,在疾病发病机制中起到重要的作用。现就hURAT1、SLC2A9和ABCG2与高尿酸血症、痛风的关系及其临床意义进行综述。     

Hearing loss due to urate deposition in the middle ear: A case report and literature review

Gout is the most common cause of monoarthritis in men occurring classically in the great toe and the knee.Extra-articular gout manifestations are rare.Only a few cases of head and neck urate crystals deposits have been described in the literature.Precipitations in the middle ear cause conductive hearing loss with common otoscopic anomalies and difficult imaging diagnosis.We report a case of a healthy 58-years-old man with a middle ear urate deposit causing a progressive hearing loss as the very first symptom of gout.The nature of the deposit was unsure on computer tomography(CT)due to atypical density.The final diagnosis was revealed after surgical procedure and histologic examination.A review of the literature is also presented.Seven cases of middle ear urate deposit as the first symptom of gout were found and compared.Progressive conductive hearing loss in middle-aged patients with abnormal otoscopy and middle ear atypical density mass on CT scan must lead to a minimal surgical procedure with a histologic examination to exclude urate crystals deposits.     

美宝创疡贴治疗1例痛风并发难治性溃疡的临床体会

为了进一步观察美宝创疡贴治疗痛风并发难治性溃疡的临床疗效,我们对2010年11月收治的1例痛风并发溃疡创面采用美宝创疡贴处理.该病例为53岁男性患者,痛风病史16年,近5年来双侧内踝处皮肤反复出现溃疡,曾在外院接受8次植皮手术治疗,效果都不理想.末次手术后溃疡再次复发,在积极治疗原发病的同时,对溃疡创面予以美宝创疡贴外敷处理,原发病得到有效控制,溃疡愈合,未见复发.     

痛风性关节炎的CT、MRI对照分析

目的比较CT、MRI影像检查在痛风性关节炎中的诊断价值。方法选取我院2017年4月~2020年4月收治的经临床证实为痛风性关节炎患者80例作为观察对象,对所有患者实施CT及MRI检查,观察两种检查方法的诊断结果及影像学表现。结果80例患者确诊病变关节194个。CT检查共检出病变关节146个,MRI共检出病变关节186个,CT检查灵敏度(146/194)低于MRI(173/194)(P<0.05);相比于CT,MRI在关节积液、痛风结节、滑膜增厚、骨质破坏、关节周围水肿的检出率都更高。结论MRI对痛风性关节炎的诊断效果良好,可对关节炎病变进行较为准确的观察,具有临床推广价值。     

The urate-binding alpha 1-2 globulin. Isolation and characterization of the protein from human plasma

The urate-binding α_1–2 globulin has been isolated from human plasma in a highly purified state. The isolation procedure was based upon anion exchange chromatography of the plasma macromolecular fraction on DEAE-Sephadex columns followed by ammonium sulphate precipitations and preparative polyacrylamide gel electrophoresis. The urate-binding α_1–2 globulin is a rod-shaped glycoprotein with a molecular weight of 67000 as determined by dodecyl sulphate polyacrylamide gel electrophoresis and an isoelectric point of pH 4.6. In the presence of 6 N urea and mercaptoethanol respectively the protein does not split into subunits indicating that it might represent a single polypeptide chain. The urato-binding α_1–2 globulin contains 12.1% of carbohydrates including galactose, mannoso, galactosamine and sialic acid. The amino acid composition of the protein does not differ significantly from what is found in other plasma proteins except for the presence in automatic amino acid analysis of an hitherto unidentified compound. Further work is required in order to determine the number of binding sites for uric acid on the protein molecule.—The urate-binding α_1–2 globulin does not seem to be identical to any previously characterized protein from human blood.     

痛风性关节炎X线表现与临床分析

目的探讨痛风性关节炎的X线及临床特点的。方法总结分析28例痛风性关节炎的X线表现、临床表现及实验室检查的结果。结果患者全部为男性,平均发病年龄为（50±16）岁。以足第一跖趾最为好发（19/28,67.9%）。X线表现主要是软组织偏侧性肿胀;骨质侵蚀性破坏呈穿凿状,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。结论痛风性关节炎是一种主要累及中年男性,以急性关节炎症为主要表现的疾病,以第一跖趾关节最常受累。痛风性关节炎的X线表现多样,易与其他单发或多发骨关节病相混淆,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做出正确诊断。