1例CNNM2突变致儿童遗传性肾性低镁血症遗传学分析  

Genetic analysis of hereditary renal hypomagnesemia in children caused by CNNM2 mutations:A case report

作　　者：刘静[1] 张银娟 梁丽俊[1] 马金海[1] LIU Jing;ZHANG Yinjuan;LIANG Lijun;MA Jinhai(General Hospital of Ningxia Medical University,Yinchuan,Ningxia 750004,China)

机构地区：[1]宁夏医科大学总医院,宁夏银川750004

出　　处：《中国优生与遗传杂志》2024年第5期1031-1033,共3页Chinese Journal of Birth Health & Heredity

基　　金：宁夏自然科学基金(2023AAC03626)。

摘　　要：目的分析1例CNNM2突变致儿童遗传性肾性低镁血症的遗传学特点。探讨儿童遗传性肾性低镁血症的临床表现、诊断、鉴别诊断、基因检测结果及治疗疗效。方法收集确诊遗传性肾性低镁血症患儿临床资料,包括病史、体征、辅助检查等,分析遗传性特点及治疗过程。结果患儿表现为反复头痛头晕、四肢麻木无力,智力低下,行全外显子组测序提示CNNM2基因杂合变异,变异位点为exon1:c.806C>T(p.S269L),口服门冬氨酸钾镁片,随访一年半。结论患儿临床表现和基因结果确诊为遗传性肾性低镁血症,该病例发现的位点为未报道的新发致病变异,扩增了CNNM2基因的变异谱。镁补充疗法对CNNM2变异相关的低镁血症没有显著疗效。Objective To analyze the genetic characteristics of a hereditary renal hypomagnesemia case in children caused by CNNM2 mutation,discuss the clinical manifestations,diagnosis,differential diagnosis,genetic testing results and treatment efficacy.Methods The clinical data of children with confirmed hereditary renal hypomagnesemia were collected,including medical history,signs,physical examinations,etc.,and the hereditary characteristics and treatment process were analyzed.Results The presented symptoms include headache and dizziness,numbness and weakness in the limbs and hypophrenia.Exome sequencing was conducted and revealed that the patient is a heterozygotic carrier of a novel CNNM2 genetic variant(c.806C>T;p.S269L).Potassium and magnesium aspartate tablets were prescribed followed by dose adjustment in the next a half year.Conclusion The clinical manifestations and genetic results of the child confirmed hereditary renal hypomagnesemia,and the locus found in this case was an unreported de novo pathogenic variant,which amplified the variant profile of CNNM2 gene.Magnesium supplementation therapy has no significant efficacy in hypomagnesaemia associated with CNNM2 variants.

关 键 词：儿童 遗传性疾病 镁重吸收 

分 类 号：R725.9[医药卫生—儿科]