痛风:疼痛性关节炎的缩影。

Gout: epitome of painful arthritis.

机构信息

St. Luke's-Roosevelt Hospital Center, Columbia University College of Physicians and Surgeons, New York, NY 10025, USA.

出版信息

Metabolism. 2010 Oct;59 Suppl 1:S32-6. doi: 10.1016/j.metabol.2010.07.009.

Abstract

Arthritic pain and disability are at or near the top of the list of reasons adult patients seek medical attention. At least 47.8 million US residents have arthritis. In Europe, the magnitude of the problem is similar, affecting 8 million in the United Kingdom and 108 million across the continent. Osteoarthritis is by far the most common form of arthritis. In a regional UK study, nearly half of adults 50 years or older reported some form of osteoarthritic knee pain over a 1-year period. Among the arthritides, gout is notable for the agonizing nature and unique pathogenesis of the pain it generates. Gout is the most common cause of inflammatory arthritis among men and postmenopausal women. Because of the atypical nature of some of its clinical manifestations, gout can present serious diagnostic challenges for practicing physicians. In recent years, knowledge about gout's pathogenesis, pathophysiology, and differential diagnosis has advanced on a broad front. Genetic variants within a newly identified transport gene, SLC2A9, have been associated with a low fractional excretion of uric acid and the presence of gout in several population samples. The SLC2A9 gene encodes glucose transporter 9-a unique hexose and high-capacity urate transporter. In addition, human ATP-binding cassette, subfamily G2 (ABCG2), encoded by the ABCG2 gene, has been found to mediate renal urate secretion. Introduction of a mutation encoded in a model system by a common single nucleotide polymorphism, rs2231142, resulted in a 53% reduction in urate transport rates compared with wild-type ABCG2. Based on a large population study, it has been estimated that at least 10% of all gout cases in white persons may be attributable to this single nucleotide polymorphism causal genetic variant. Of the various categories of arthritis, the crystal-induced arthropathies, gout and pseudogout, are manifested by acute inflammation and tissue damage arising from deposition in joints and periarticular tissues of monosodium urate (MSU), calcium pyrophosphate dehydrate, or basic calcium phosphate crystals. The innate immune system rapidly detects invading pathogenic microbes and nonmicrobial "danger signals" such as MSU crystals. When these crystals are deposited in synovial tissues, NLR proteins (NOD-like receptors) form multiprotein complexes known as inflammasomes that trigger secretion of inflammation-producing cytokines like interleukin-1β and interleukin-18. Usually, gout can be diagnosed by medical history, physical examination, and presence of hyperuricemia (urate >416 μmol/L). However, a urate concentration less than 416 does not by itself rule out gout. Confirmation of the diagnosis by identification of typical MSU crystals in aspirated synovial fluid is definitive. Analysis of joint fluid is mandatory to rule out septic arthritis, which can rapidly become lethal. Because of its special ability to identify and quantitate urate deposits in peripheral tissues, dual-energy computed tomography should prove valuable in the differential diagnosis of gout. Gout mimics a variety of illnesses; for example, spinal gout may masquerade as metastatic cancer, epidural abscess, and nerve compression syndrome.

摘要

关节炎疼痛和残疾是成年患者寻求医疗的主要原因之一。至少有 4780 万美国居民患有关节炎。在欧洲,问题的严重程度相似,英国有 800 万人,整个欧洲大陆有 1.08 亿人受到影响。骨关节炎是迄今为止最常见的关节炎形式。在英国的一项区域性研究中,近一半 50 岁或以上的成年人在 1 年内报告了某种形式的骨关节炎膝盖疼痛。在关节炎中,痛风以其产生疼痛的剧烈性质和独特的发病机制而引人注目。痛风是男性和绝经后妇女中最常见的炎症性关节炎病因。由于其某些临床表现的非典型性质,痛风可能对执业医生构成严重的诊断挑战。近年来,痛风发病机制、病理生理学和鉴别诊断的知识在广泛的领域取得了进展。在几个人群样本中,新确定的转运基因 SLC2A9 内的遗传变异与尿酸排泄的低分数排泄和痛风的存在有关。SLC2A9 基因编码葡萄糖转运蛋白 9-一种独特的己糖和高容量尿酸转运蛋白。此外,人类 ATP 结合盒亚家族 G2(ABCG2),由 ABCG2 基因编码,已被发现介导肾脏尿酸分泌。在模型系统中引入常见的单核苷酸多态性 rs2231142 编码的突变,导致尿酸转运率比野生型 ABCG2 降低 53%。基于一项大型人群研究,估计白人中至少有 10%的痛风病例可能归因于这种单核苷酸多态性因果遗传变异。在各种关节炎类别中,晶体诱导性关节病、痛风和假性痛风,表现为急性炎症和组织损伤,由尿酸单钠(MSU)、焦磷酸钙二水合物或碱性磷酸钙晶体在关节和关节周围组织中的沉积引起。先天免疫系统迅速检测到入侵的致病微生物和非微生物“危险信号”,如 MSU 晶体。当这些晶体沉积在滑膜组织中时,NLR 蛋白(NOD 样受体)形成称为炎性体的多蛋白复合物,触发白细胞介素 1β和白细胞介素 18 等炎症产生细胞因子的分泌。通常,通过病史、体检和高尿酸血症(尿酸>416 μmol/L)可以诊断痛风。然而,尿酸浓度低于 416 并不能排除痛风。在抽吸的滑液中鉴定出典型的 MSU 晶体可明确诊断。为了排除可迅速致命的脓毒性关节炎,必须对关节液进行分析。由于其在识别和定量外周组织中尿酸沉积方面的特殊能力,双能 CT 有望在痛风的鉴别诊断中发挥重要作用。痛风模仿多种疾病;例如,脊柱痛风可能伪装为转移性癌症、硬膜外脓肿和神经压迫综合征。

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