TRPM6基因复合杂合突变致原发性低镁血症继发低钙血症合并显著肌酸激酶升高1例并文献复习  

Literature Review of a Case of Hypomagnesemia with Secondary Hypocalcemia Combined with Significant Creatine Kinase Elevation Due to Compound Heterozygous Mutation in TRPM6 Gene

作　　者：张旭 高健[2] 吕智慧 王媛媛[2] ZHANG Xu;GAO Jian;LYU Zhihui;WANG Yuanyuan(School of Clinical Medicine,Shandong Second Medical University,Weifang 261053,China;Department of Pediatrics,Weifang Maternal and Child Health Hospital,Weifang 261071,China)

机构地区：[1]山东第二医科大学临床医学院,山东潍坊261053 [2]潍坊市妇幼保健院儿科,山东潍坊261071

出　　处：《医学综述》2024年第4期508-512,共5页Medical Recapitulate

摘　　要：目的探讨TRPM6基因复合杂合突变致原发性低镁血症继发低钙血症(HSH)合并显著肌酸激酶升高患儿的临床特征及治疗效果。方法回顾性分析潍坊市妇幼保健院2022年经全外显子测序基因检测确诊的1例TRPM6基因复合杂合突变致HSH合并显著肌酸激酶升高患儿的临床资料及治疗效果。结果患儿全外显子测序基因检测显示存在TRPM6基因的复合杂合突变,家系验证结果显示,该突变分别来自父母双方,父母双方均为杂合突变,但位于同一染色体的不同等位基因,其中父亲chr9:77377010存在c.4577G>A杂合突变,母亲chr9:77407555存在c.2523G>C杂合突变,两个位点的突变在千人基因组、ExAC和gnomAD外显子数据库中均未见收录。患儿入院后经过补镁、纠正电解质紊乱等对症治疗,随访1年内未再抽搐,血镁仍维持在正常低线,其余异常结果均处于正常范围。结论基因检测为确诊HSH的金标准,致HSH的TRPM6基因复合杂合突变属于常染色体隐性遗传,补镁等对症治疗对TRPM6基因突变致HSH的治疗效果显著。Objective To investigate the clinical features and therapeutic efficacy of children with hypomagnesemia with secondary hypocalcemia(HSH)with significant creatine kinase elevation caused by compound heterozygous mutation of TRPM6 gene.Methods Retrospective analysis of the clinical data and therapeutic effect of a case of HSH with significant creatine kinase elevation caused by compound heterozygous mutation of TRPM6 gene diagnosed by whole-exome sequencing genetic test in Weifang Maternal and Child Health Hospital in 2022 was done.Results The whole-exome sequencing gene test of the patient showed the presence of a compound heterozygous mutation in the TRPM6 gene.Family verification results showed that the mutation came from both parents,both of whom were heterozygous mutations,but different alleles located on the same chromosome.The father chr9:77377010 had a c.4577G>A heterozygous mutation,while the mother chr9:77407555 had a c.2523G>C heterozygous mutation.The mutations at both loci were found in neither the 1000 genomes,nor the ExAC and gnomAD exon databases.After admission,the patient underwent symptomatic treatment such as magnesium supplementation and correction of electrolyte disorders.Within one year of follow-up,there were no further seizures,and blood magnesium remained at a normal low line,while all other abnormal results were within the normal range.Conclusion Genetic test is the gold standard for the diagnosis of HSH.Compound heterozygous mutation of TRPM6 gene causing HSH belongs to recessive autosomal inheritance,and symptomatic treatment such as magnesium supplementation has significant effect on HSH caused by TRPM 6 gene mutation.

关 键 词：原发性低镁血症 TRPM6基因突变 低钙血症 肌酸激酶 

分 类 号：R589[医药卫生—内分泌]