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吉特林综合征中低镁血症继发的软骨钙质沉着症。

Chondrocalcinosis secondary to hypomagnesemia in Gitelman's syndrome.

作者信息

Ea Hang-Korng, Blanchard Anne, Dougados Maxime, Roux Christian

机构信息

Rheumatology Department, René Descartes University, France.

出版信息

J Rheumatol. 2005 Sep;32(9):1840-2.

Abstract

Chondrocalcinosis can be associated with hyperparathyroidism, hemochromatosis, hypophosphatasia, and hypomagnesemia. Gitelman syndrome (GS), an inherited disorder due to loss of function mutations of the gene encoding the distal convoluted tubule Na-Cl cotransporter (NCCT), is characterized by hypokalemia metabolic alkalosis, hypomagnesemia, and hypocalciuria. A 53-year-old man, with history of recurrent joint effusions and pains affecting knees and wrists, had transient episodes of muscle pain, weakness, cramping, and fatigue over a one-year period. Laboratory tests showed hypokalemia, metabolic alkalosis, hypocalciuria, and hypomagnesemia related to genetically proven GS. Radiographs of affected joints revealed calcium pyrophosphate dihydrate deposition. This observation points out the necessity to look for Mg depletion (and especially GS) in the biological investigation of chondrocalcinosis. Additionally, the association between GS (NCCT inactivation) and high bone mineral density provides a new insight into the possible role of thiazides in osteoporosis management.

摘要

软骨钙质沉着症可能与甲状旁腺功能亢进、血色素沉着症、低磷酸酯酶症和低镁血症有关。吉特曼综合征(GS)是一种遗传性疾病,由编码远曲小管钠氯共转运体(NCCT)的基因功能丧失突变引起,其特征为低钾血症、代谢性碱中毒、低镁血症和低钙尿症。一名53岁男性,有反复出现的膝关节和腕关节积液及疼痛病史,在一年时间里有短暂的肌肉疼痛、无力、痉挛和疲劳发作。实验室检查显示与基因检测证实的GS相关的低钾血症、代谢性碱中毒、低钙尿症和低镁血症。受累关节的X线片显示有二水焦磷酸钙沉积。这一观察结果指出,在软骨钙质沉着症的生物学检查中寻找镁缺乏(尤其是GS)的必要性。此外,GS(NCCT失活)与高骨密度之间的关联为噻嗪类药物在骨质疏松症管理中的可能作用提供了新的见解。

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