TRPM6基因突变致遗传性低镁血症继发低钙血症家系报告暨文献复习  

Hypomagnesemia with secondary hypocalcemia caused by TRPM6 gene mutation:a family case report and literature review

作　　者：廖淑芳 江静波 LIAO Shu-fang;JIANG Jing-bo(Shenzhen Clinical College of Pediatrics,Shantou University School of Medicine,Shantou 518034,Guangdong,CHINA;Department of Pediatrics,the Second Longgang District People's Hospital of Shenzhen,Shenzhen 518112,Guangdong,CHINA;Department of Pediatrics,Shenzhen Children's Hospital,Shenzhen 518034,Guangdong,CHINA)

机构地区：[1]汕头大学医学院深圳儿科临床学院,广东深圳518034 [2]深圳市龙岗区第二人民医院儿科,广东深圳518112 [3]深圳市儿童医院新生儿科,广东深圳518034

出　　处：《海南医学》2024年第20期3012-3015,共4页Hainan Medical Journal

基　　金：广东省高水平医院建设专项经费资助项目(编号:ynkt2021-2216);广东省深圳市医疗卫生三名工程项目(编号:SZSM202311027);广东省临床重点专科建设项目。

摘　　要：遗传性低镁血症继发低钙血症(HSH)是一种罕见的常染色体隐性遗传病,属于离子通道病的范畴。HSH多在婴儿期起病,以无热抽搐为主要临床表现,实验室检查可见血清镁离子、钙离子水平明显减低,若诊断不及时,患儿可出现反复癫痫发作、难治性癫痫、运动发育落后、智力倒退等严重并发症。本文报道一例三胞胎TRPM6基因突变导致新生儿期发病的遗传性HSH病例,通过回顾性分析该三胞胎患儿的临床特点、实验室检查,及时予以补镁补钙治疗后获得显著疗效,并复习相关文献,以提高临床医生对该疾病的认识与重视,做到早诊断、早治疗,防止HSH患者死亡或神经系统发育远期后遗症,为临床诊治提供参考。Hypomagnesemia with secondary hypocalcemia(HSH)is a rare autosomal recessive disorder belonging to the category of ion channel diseases.HSH usually starts in infancy,with non-febrile convulsions as the main clinical manifestations.Laboratory tests show that serum magnesium ion and calcium ion levels are significantly reduced.If not diagnosed in time,children may develop serious complications such as recurrent epileptic seizures,refractory epilepsy,delayed motor development,and mental retardation.This paper reports a case of hereditary HSH in triplets with TRPM6 gene mutation resulting in neonatal onset.Through retrospective analysis of the clinical characteristics and laboratory examination of the triplets,significant effects were obtained after timely treatment with magnesium and calcium supplementation.Relevant literature was reviewed to improve clinicians'understanding and attention to the disease,so as to achieve early diagnosis and treatment in order to prevent the death of HSH patients or long-term sequelae of nervous system development and provide reference for clinical diagnosis and treatment.

关 键 词：TRPM6基因 遗传性低镁血症 低钙血症 抽搐 

分 类 号：R394.4[医药卫生—医学遗传学]