镁离子在体内参与多种生化代谢反应,对各器官系统发挥正常生理功能起重要作用.体内镁离子的平衡主要依赖于肠道镁吸收和肾脏镁排泄的精密调节.遗传性低镁血症包括家族性低镁血症合并高尿钙和肾钙质沉着、常染色体显性遗传低镁血症合并低尿钙、家族性低镁血症继发低钙血症、常染色体显性遗传低钙血症等.近年来,对于这些遗传性低镁血症的基因研究及相关蛋白质功能研究使人们对体内镁离子转运机制有了更深一步的认识.%Magnesium participates in many fundamental metabolic processes and plays important roles in maintaining normal body function. Magnesium homeostasis is regulated by a fine balance between gastrointestinal absorption and renal excretion. Several hereditary disorders characterized by hypomagnesemia have been described since 1960s, including familial hypomagnesemia with hypercalciuria and nephrocalcinosis, autosomal dominant hypomagnesemia with hypocalciuria, hypomagnesemia with secondary hypocalcemia, autosomal dominant hypocalcemia and etc. Recent advances in molecular genetics and protein functions contribute to more understanding of magnesium transport. We will review clinical aspects of hereditary disorders of hypomagnesemia and summarize genetic findings related to these disorders.
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