Gitelman综合征合并骨性关节炎一例

Gitelman's syndrome with osteoarthrosis:a case report

Gitelman综合征(GS)是一种常染色体隐性遗传性疾病,其病因为肾单位远曲小管氯化钠重吸收障碍,目前尚不能完全治愈。该病的临床表现具有很大的异质性,患者可无任何临床症状,常因常规体检发现低钾血症而被确诊;也可表现为乏力、夜尿增多、烦渴、多饮或低血压等。目前GS合并骨性关节炎文献报道较少。笔者遇到1例GS合并骨关节病患者,以低钾、低镁、代谢性碱中毒、血压正常偏低合并左膝关节红肿、疼痛为临床特点,给予补钾、补镁等治疗后患者症状好转。

Gitelman’s syndrome(GS)is an autosomal recessive hereditary tubulopathy.It is caused by sodium reabsorption in the distal convoluted tubule of the renal unit,which is not yet fully cured.It is characterized by great heterogeneity with clinical manifestations.Some patients with no symptoms,were confirmed by hypokalemia with physical examination.The others can be manifested as fatigue,nocturia,polydipsia and hypotension.Less literature is reported about GS combined with osteoarthrosis.In this report,the author reported a patient of GS with osteoarthrosis characterized by hypokalemia,hypomagnesemia,metabolic alkalosis,lower blood pressure,and swelling and pain in left knee joint.The symptoms were improved after treatment with potassium and magnesium supplementation.