1 King's College Hospital NHS Foundation Trust, London, UK.
2 Rheumatology, The Royal Wolverhampton NHS Trust, Wolverhampton, UK.
Ann Clin Biochem. 2019 May;56(3):411-414. doi: 10.1177/0004563219826169. Epub 2019 Feb 27.
We report a 49-year-old woman with an acute swollen left knee due to acute pseudogout with chondrocalcinosis as a presenting feature of Gitelman syndrome due a novel homozygous mutation of the SLC12A3 gene. This report highlights the under-recognized importance of excluding metabolic disease, including Gitelman syndrome, in younger patients whose sole presenting feature may be chondrocalcinosis with or without pseudogout, as this may impact on management and risk of further episodes. We also suggest that chondrocalcinosis and hypomagnesaemia with or without hypokalaemia are diagnostic of Gitelman syndrome.
我们报告了一例 49 岁女性，因 SLC12A3 基因的新型纯合突变导致 Gitelman 综合征，以急性假性痛风伴软骨钙质沉着症为特征，表现为左膝急性肿胀。本报告强调了在仅表现为软骨钙质沉着症伴或不伴假性痛风的年轻患者中排除代谢性疾病（包括 Gitelman 综合征）的重要性，因为这可能会影响管理和进一步发作的风险。我们还建议，软骨钙质沉着症和低镁血症伴或不伴低钾血症是 Gitelman 综合征的诊断依据。
