Gitelman综合征合并骨性关节炎一例

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。...

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Bibliographic Details
Published in天津医药 Vol. 45; no. 7; pp. 748 - 750
Main Author 杨馨鑫;付冬霞;高芳;王光亚
Format Journal Article
LanguageChinese
Published 河北省沧州市中心医院内分泌二科 061014 2017
Subjects
Gitelman综合征;低钾血症;骨关节炎;软骨钙化
hypokalemia
Gitelman综合征
osteoarthritis
cartilage calcification
骨关节炎
Gitelman's syndrome
低钾血症
软骨钙化
Online AccessGet full text
ISSN0253-9896
DOI10.11958/20170098

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Summary: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。
Bibliography: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.
Gitelman's syndrome; hypokalemia; osteoarthritis; cartilage calcification
12-1116/R
ISSN:0253-9896
DOI:10.11958/20170098