Rouached Leila, Hannech Emna, Jeribi Riadh, Saidane Olfa, Ben Tekaya Aicha, Bouden Selma, Tekaya Rawdha, Belhaj Kacem Linda, Mahmoud Ines, Rammeh Soumaya, Abdelmoula Leila
Rheumatology Department, Charles Nicolle Hospital, Boulevard du 9 Avril 1938, 1006, Tunis, Tunisia.
Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
Clin Rheumatol. 2023 Jan;42(1):285-291. doi: 10.1007/s10067-022-06361-2. Epub 2022 Sep 27.
Gitelman syndrome represents the clinical manifestations of inactivation of the Slc12a3 genes encoding the thiazide-sensitive sodium chloride cotransporter and the Trpm6-Mg genes encoding the magnesium transporters in the distal convoluted tubule. In fact, the biochemical findings resemble those with thiazide diuretics such as hypokalemia, hypomagnesaemia, hypocalciuria, metabolic alkalosis, and low normal blood pressure. He is usually associated with calcium pyrophosphate deposition. Serum uricemia level is rarely affected in Gitelman syndrome. We aimed to report a rare association of chronic gout with Gitelman syndrome, hence the interest of our case. We describe a 29-year-old male patient with a history of Gitelman syndrome associated with articular gout including pelvic localization. We provided pictorial evidence of extensive and diffuse monosodium urate deposition in articular and periarticular structures to confirm the gout origin. A literature review illustrates 4 reported cases of Gitelman syndrome associated with gout. The gender distribution was equal with a mean age of 40 years.
吉特曼综合征表现为编码噻嗪类敏感型氯化钠协同转运蛋白的Slc12a3基因以及编码远曲小管镁转运蛋白的Trpm6-Mg基因失活的临床表现。事实上，其生化检查结果与使用噻嗪类利尿剂后的表现相似，如低钾血症、低镁血症、低钙尿症、代谢性碱中毒以及血压略低于正常水平。它通常与焦磷酸钙沉积有关。在吉特曼综合征中，血清尿酸水平很少受到影响。我们旨在报告一例吉特曼综合征合并慢性痛风的罕见病例，因此我们的病例具有一定的研究价值。我们描述了一名29岁男性患者，有吉特曼综合征病史，伴有包括骨盆部位在内的关节痛风。我们提供了关节和关节周围结构中广泛弥漫性尿酸钠沉积的影像学证据，以证实痛风的病因。文献综述显示有4例吉特曼综合征合并痛风的报道。性别分布均等，平均年龄为40岁。
