频发肌肉抽搐-低镁血症-低钙血症

Repeating muscle twitching-hypomagnesemia-hypocalcemia

本文报道1例青少年起病的低镁血症患者,临床主要表现为反复发作双手抽搐,多次查血镁显著降低,伴间断低钙血症,经系统评估未见明确获得性病因,行全外显子基因检测示TRPM6基因新发杂合缺失突变。经分析,考虑与疾病相关可能性大,因此考虑患者诊断遗传性低镁血症继发低钙血症(hypomagnesemia with secondary hypocalcemia,HSH)可能性大。单纯补镁治疗后患者症状改善,生化指标大致正常。本文对低镁血症诊疗思路、TRPM6蛋白结构与功能、HSH患者病例特点等进行文献复习,以期为临床低镁血症的诊疗提供参考。

A female patient with hypomagnesemia who had an onset of symptoms during adolescence was reported with recurrent muscle spasm of bilateral hands and significantly reduced serum magnesium level,accompanied by intermittent hypocalcemia.There was no evidence of acquired hypomagnesemia related diseases after evaluation.Whole exome sequencing revealed a novel heterozygous deletion mutation in TRPM6 gene,which was considered related to hypomagnesemia.The diagnosis of hypomagnesemia with secondary hypocalcemia(HSH)was suggested.Following magnesium supplementation therapy,the patient s symptoms and indices were improved.This article provided a brief review of diagnostic and therapeutic approach to hypomagnesemia,TRPM6 protein structure and function,and HSH,aiming to serve as a reference for the clinical diagnosis and treatment of hypomagnesemia.