目的 分析遗传性低镁血症的诊断及治疗。方法 回顾分析1例遗传性低镁血症患儿的临床资料，并复习文 献。结果 男性患儿，6月龄时因低镁血症导致抽搐就诊，补镁治疗后血镁仅能维持在0 . 6 mmol/L左右。全外显子测序显 示患儿TRPM 6存在复合杂合变异，c. 2495 A>G（p.Tyr 832 Cys）和c. 3357 C>A（p.Cys 1119 *）。患儿长期口服镁剂治疗，生 长发育良好。结论 TRPM 6基因c.2495A>G和c.3357C>A复合杂合变异可致遗传性低镁血症1型（肠型），及时诊断及 治疗可避免不可逆的神经认知功能损害。

Objective To analyze the diagnosis and treatment of hereditary hypomagnesemia. Methods The clinical data of hereditary hypomagnesemia of one child were retrospectively analyzed and the related literatures were reviewed. Results The boy was admitted at 6 months of age due to convulsion caused by hypomagnesemia, and the blood magnesium level was only maintained at about 0 . 6 mmol/L after magnesium supplementation. Whole exome sequencing showed that there were compound heterozygous variations, c. 2495 A>G (p.Tyr 832 Cys) and c. 3357 C>A (p. Cys 1119* ), in TRPM 6 gene. The child was treated with oral magnesium for a long period of time and grew up l during follow-up. Conclusions Compound heterozygous variation in TRPM 6 gene (c. 2495 A>G and c. 3357 C>A) was responsible for hereditary hypomagnesemia 1 (intestinal). Diagnose and treatment for patients in time may avoid irreversible neurocognitive impairment.