Table_1_Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature Review.doc

BackgroundHereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disease due to biallelic TRPM6 mutations. Although the reports of HSH caused by TRPM6 mutations are not very rare, the age of onset in previously reported HSH cases were A mutation in TRPM6 was much later than other mutations and would be much less serious.

背景遗传性低镁血症伴继发性低钙血症（HSH）是一种罕见的常染色体隐性遗传疾病，由双等位基因TRPM6突变引起。尽管由TRPM6突变引起的HSH报道并不罕见，但先前报道的HSH病例的发病年龄较晚，TRPM6中的突变相较于其他突变出现得较晚，且其严重程度亦相对较低。