Barth综合征两兄弟及其TAZ基因新突变  

Two Brothers with Barth Syndrome and A Novel Mutation on TAZ Gene*

作　　者：许蓓 宋金青[2] 刘怡[2] 金颖[2] 张尧[2] 张立红[1] 杨艳玲[2] XU Bei;SONG Jin-qing;LIU Yi;JIN Ying;ZHANG Yao;ZHANG Li-hong;YANG Yan-ling(Department of Pediatrics,Baoding First Central Hospital,Baoding 071000,Hebei province,China;Department of Pediatrics,Peking University First Hospital,Beijing 100034,China)

机构地区：[1]河北省保定市第一中心医院普儿科,河北保定071000 [2]北京大学第一医院儿科,北京100034

出　　处：《罕少疾病杂志》2022年第11期1-3,共3页Journal of Rare and Uncommon Diseases

基　　金：国家重点研发计划(2019YFC1005100)。

摘　　要：目的分析2例TAZ基因新突变导致的Barth综合征患者的临床特点,探讨代谢性心肌病的防控及急性代谢危象诱发因素、生化诊断、治疗及预防。方法分析2例Barth综合征患者临床资料。结果哥哥出生时正常,运动发育落后,迁延性腹泻。10个月时注射疫苗,次日起反应差,嗜睡,拒奶,手脚浮肿,呼吸困难,检查发现心脏扩大、心力衰竭,6天后夭折。弟弟亦运动发育落后,体重不增。3个月时接种百白破疫苗,24小时后发热,无力。血液中性粒细胞显著降低,肌酸激酶及同工酶轻度升高。心脏彩色超声检查显示左心室心肌肥厚,左室心尖肌小梁显著增多。尿有机酸分析发现3-甲基戊烯二酸升高。家系全外显子基因分析,两兄弟X染色体TAZ基因c.221A>C突变,为未报道的错义突变,来源于其母亲,确诊为Barth综合征。弟弟经中链脂肪酸、辅酶Q10、左卡尼汀、酒石酸美托洛尔等治疗,病情显著好转。结论Barth综合征是导致心肌病的遗传代谢病,感染、疲劳、接种疫苗等应激刺激可能诱发潜在Barth综合征患者的代谢危象。Objective To study the clinical manifestations of two brothers with Barth syndrome due to novel mutation on TAZ gene,as well as the trigger factors,biochemical diagnosis,treatment and prevention of acute metabolic crisis.Methods Analyze the clinical data of 2 patients with Barth syndrome.Results The elder brother had motor development retardation and choronic diarrhea.He was vaccinated vaccine at the age of 10 months.24 hours after,he became unwell,sleepy and refused to eat milk.Breathing difficulties and swelling of the hands and feet were observed.Progressive cardiac dilatation and heart failure were found by echocardiography.Unfortunately,he died 6 days later without etiological diagnosis.When the younger brother was 3 months old,he got diphtheria-pertussis-tetanus vaccination.He had a fever and weakness in the next day.His blood neutrophils were significantly decreased.Serum creatine kinase and isozymes were slightly elevated.Echocardiography revealed left ventricular myocardial hypertrophy,significantly increased left ventricular trabecula.His urine 3-methylglutaric acid was elevated.A novel missense mutation,c.221A>C of TAZ gene in chromosome X was detected in the two brothers and their mother,supported the diagnosis of Barth syndrome.After the treatment by the supplements of medium chain fatty acids,coenzyme Q10,L-carnitine and metoprolol,the younger brother’s condition improved significantly.Conclusion Barth syndrome is a genetic metabolic disease leading to cardiomyopathy.Stress such as infection,fatigue and vaccination may induce metabolic crisis in patients with underlying Barth syndrome leading to high mortality.

关 键 词：遗传代谢病 Barth综合征 心肌病 TAZ基因 疫苗接种 

分 类 号：R725.8[医药卫生—儿科]