天津医药 ›› 2017, Vol. 45 ›› Issue (7): 748-750.doi: 10.11958/20170098

• 临床研究 • 上一篇    下一篇

Gitelman 综合征合并骨性关节炎一例

杨馨鑫,付冬霞,高芳,王光亚   

  1. 河北省沧州市中心医院内分泌二科(邮编 061014)
  • 收稿日期:2017-01-19 修回日期:2017-05-14 出版日期:2017-07-15 发布日期:2017-08-08
  • 通讯作者: 王光亚 E-mail:raywgy@sina.com

Gitelman’ s syndrome with osteoarthrosis: a case report

YANG Xin-xin,FU Dong-xia,GAO Fang,WANG Guang-ya   

  1. Department of Endocrinology, Cangzhou Central Hospital, Cangzhou 061014, China
  • Received:2017-01-19 Revised:2017-05-14 Published:2017-07-15 Online:2017-08-08
  • Contact: WANG Guang-ya E-mail:raywgy@sina.com

摘要: 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。

关键词: Gitelman 综合征, 低钾血症, 骨关节炎, 软骨钙化

Abstract: 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. Thesymptoms were improved after treatment with potassium and magnesium supplementation

Key words: Gitelman's syndrome, hypokalemia, osteoarthritis, cartilage calcification

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