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合并骨质疏松且无低血镁的Gitelman综合征1例
引用本文:陈宗存,赖舒畅,王秋怡,蔡小艳,王苑菲,符茂雄.合并骨质疏松且无低血镁的Gitelman综合征1例[J].安徽医药,2023,27(7):1353-1355.
作者姓名:陈宗存  赖舒畅  王秋怡  蔡小艳  王苑菲  符茂雄
作者单位:海南医学院第二附属医院内分泌科,海南海口 570311
基金项目:海南省自然科学基金面上项目( 821MS138);海南省重点研发计划项目( ZDYF2021SHFZ080)
摘    要:目的 探讨Gitelman综合征(GS)合并重度骨质疏松的临床特点、诊断和治疗,加深对该病的认识。方法 2017年2月海南医学院第二附属医院内分泌科住院的GS合并重度骨质疏松且无低血镁1例,复习文献,总结该病特点。结果 该病主要表现为严重低钾血症、多处骨关节疼痛,易误诊。予积极补钾、抗醛固酮、抗骨质疏松治疗,有效缓解了病情。结论 GS虽然尿钙低,无低血镁,但也可以合并骨质疏松。因此,对存在多关节疼痛的GS病人,应及时进行双能X线骨密度检查早期筛查骨质疏松。对于此类病人,积极给予补钾、抗醛固酮及抗骨质疏松治疗可提高疗效。

关 键 词:Gitelman综合征  低钾血症  骨质疏松  

Gitelman syndrome with osteoporosis and normal blood magnesium: one case report
CHEN Zongcun,LAI Shuchang,WANG Qiuyi,CAI Xiaoyan,WANG Yuanfei,FU Maoxiong.Gitelman syndrome with osteoporosis and normal blood magnesium: one case report[J].Anhui Medical and Pharmaceutical Journal,2023,27(7):1353-1355.
Authors:CHEN Zongcun  LAI Shuchang  WANG Qiuyi  CAI Xiaoyan  WANG Yuanfei  FU Maoxiong
Institution:Department of Endocrinology,The Second Affiliated Hospital of Hainan Medical University, HaiKou ,Hainan 570311,China
Abstract:Objective To investigate the clinical characteristics, diagnosis and treatment of Gitelman syndrome with osteoporosisand normal blood magnesium.Methods One case of Gitelman syndrome with severe osteoporosis and no hypomagnesium was admitted to the Department of Endocrinology, the Second Affiliated Hospital of Hainan Medical University on February, 2017. The literatureswere reviewed and the characteristics of the disease were summarized.Results The disease was characterized by severe hypokalemia,multiple bone and joint pain, which was easily misdiagnosed. Potassium, aldosterone antagonist and anti-osteoporotic effectively allevi ated the disease.Conclusion Although Gitelman syndrome has low urinary calcium and no low blood magnesium, it can also be associated with osteoporosis. Therefore, Gitelman syndrome patients with multiple joint pain should be promptly screened for osteoporosisby dual-energy X-ray bone density examination. For such patients, active administration of potassium supplement, anti-aldosterone and anti-osteoporosis therapy can improve the curative effect.
Keywords:Gitelman syndrome  Hypokalemia  Osteoporosis  Blood magnesium
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