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病例报告:一名年轻女性的痛风性肾脓肿和痛风性骶髂关节炎与基因变异相关

Case report: Gouty renal abscess and gouty sacroiliitis associated with genetic variants of a young woman.

作者信息

Tang Dabin, Jiang Yubao, Ling Guichen, Zhang Jianyong, Xie Jingjing

机构信息

The Fourth Clinical Medical College of Guangzhou University of Chinese Medicine, Shenzhen, Guangdong, China.

The Department of Rheumatology, Shenzhen Traditional Chinese Medicine Hospital, Shenzhen, Guangdong, China.

出版信息

Front Med (Lausanne). 2025 Feb 28;12:1509018. doi: 10.3389/fmed.2025.1509018. eCollection 2025.

Abstract

Gout is a form of inflammatory arthritis characterized by the deposition of monosodium urate (MSU) crystals in the joints, resulting from a disorder in purine metabolism. It occurs more frequently in men than in women prior to menopause and is rare in young women. Gout can lead to various health complications, with many patients experiencing a significant burden of chronic kidney disease (CKD) and joint deformities. The development of gout is influenced by a complex interplay of genetic, environmental, and lifestyle factors, with elevated serum MSU levels serving as a key risk factor for its onset. However, only 10% of individuals with hyperuricemia go on to develop clinical gout, and several susceptibility loci are associated with the condition. Here, we present a case of a young woman with gouty sacroiliitis and gouty nephropathy linked to susceptibility loci.

摘要

痛风是一种炎症性关节炎,其特征是关节中存在尿酸钠(MSU)晶体沉积,这是由嘌呤代谢紊乱引起的。在绝经前,痛风在男性中比在女性中更常见,在年轻女性中很少见。痛风可导致各种健康并发症,许多患者经历慢性肾病(CKD)和关节畸形的重大负担。痛风的发展受遗传、环境和生活方式因素的复杂相互作用影响,血清MSU水平升高是其发病的关键危险因素。然而,只有10%的高尿酸血症患者会发展为临床痛风,并且有几个易感基因座与该疾病相关。在此,我们报告一例患有与易感基因座相关的痛风性骶髂关节炎和痛风性肾病的年轻女性病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/664b/11906439/f49ea2ad6b30/fmed-12-1509018-g001.jpg

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