TANGO2基因突变致复发性横纹肌溶解1例临床特点并文献复习  

TANGO2 Gene Mutation-Induced Recurrent Rhabdomyolysis:A Case Report and Literature Review

作　　者：李艳芳 张延花 赵波[1] LI Yanfang;ZHANG Yanhua;ZHAO Bo(Children's Hospital of Kunming Medical University,Kunming,Yunnan 650228,China)

机构地区：[1]昆明医科大学附属儿童医院,云南昆明650228

出　　处：《大医生》2020年第9期115-117,共3页Doctor

基　　金：省应用基础研究{编号:[2017FE468(-100)]}。

摘　　要：该文报道1例TANGO2基因致病性变异致儿童复发性横纹肌溶解综合征的临床及基因突变特点并文献复习。患儿男,5岁8月,2年内发生两次横纹肌溶解症,伴步态异常,智力及语言功能倒退,血乳酸升高,血钾、血磷降低,全外显子检测提示TANGO2基因有1个纯合突变:c.311+1G〉A,为TANGO2基因突变致复发性横纹肌溶解。并以“TANGO2 gene,rhabdomyolysis”“TANGO2基因,横纹肌溶解症”This article reports the clinical and gene mutation characteristics of a child with recurrent rhabdomyolysis syndrome caused by the pathogenic mutation of TANGO2 gene and literature review.A male child,5 years old and 8 months old,had two rhabdomyolysis cases with abnormal gait,decreased intelligence and language function,increased blood lactate,decreased blood potassium and blood phosphorus in 2 years.Exon detection suggested that TANGO2 gene had One homozygous mutation:c.311+1G>A,which is the mutation of TANGO2 gene to recurrent rhabdomyolysis.And use"TANGO2 gene,rhabdomyolysis""TANGO2 gene,rhabdomyolysis"as keywords,search PubMed database,China Knowledge Network and Wanfang database to the relevant literature until May 2020,and review.The report suggests that for patients who have had onset during childhood and have repeatedly suffered from rhabdomyolysis,especially those with damage to the nervous system and cardiovascular system,genetic testing should be performed as soon as possible to determine the cause to improve clinical diagnosis and treatment.

关 键 词：儿童 横纹肌溶解症 TANGO2基因 

分 类 号：R73[医药卫生—肿瘤]