以喘息、智力运动发育倒退为临床表现的生物素酶缺乏症1例诊疗分析  

Diagnosis and treatment of biotinase deficiency with manifestations of wheezing and psychomotor retardation in a case

作　　者：谢丽娜[1] 毛莹莹[1] 陈倩[1] XIE Lina;MAO Yingying;CHEN Qian(Children’s Hospital Capital Institute of Pediatrics,Beijing 100020,China)

机构地区：[1]首都儿科研究所附属儿童医院神经内科,北京100020

出　　处：《临床儿科杂志》2020年第10期773-776,共4页Journal of Clinical Pediatrics

摘　　要：目的分析生物素酶缺乏症(BTDD)的临床特点和诊疗方法。方法回顾分析1例生物素酶基因变异致BTDD患儿的临床资料,并复习相关文献。结果男性患儿,13月龄,生后8月龄起病,反复出现喘息,大运动发育倒退,顽固性代谢性酸中毒合并代偿性呼吸性碱中毒;尿液有机酸分析提示乳酸、酮体、琥珀酸、延胡索酸、2.3DH2MB、3 meglutarconate、苹果酸增高;生物素酶活性显著减低。全外显子基因检测提示患儿BTD基因c.1493dupT纯合变异,为致病性变异,分别来自表型正常的父母,确诊为BTDD。补充生物素后患儿喘息症状数小时内缓解。结论疑似BTDD者应尽早行血尿串联质谱检测,完善生物素酶活性和基因检测。Objective To explore the clinical characteristics,diagnosis and treatment of biotinidase deficiency(BTDD).Method The clinical data of BTDD caused by biotinidase gene mutation in a child was analyzed retrospectively,and the literature was reviewed.Results A 13-month-old boy had onset at 8 months after birth.He presented with recurrent wheezing,gross motor development regression,refractory metabolic acidosis combined with compensatory respiratory alkalosis.Urine organic acid analysis showed that the levels of lactic acid,ketone bodies,succinic acid,fumaric acid,2.3 DH 2 MB,3 meglutarconate,and malic acid were increased.The activity of biotinidase decreased significantly.The whole-exome gene test revealed that the child had a homozygous variant c.1493 dupT in the BTD gene,which came from both his parents with normal phenotype,and it was a pathogenic variant.He was confirmed with the diagnosis of BTDD.The wheezing symptoms in the child were relieved within a few hours after biotin supplementation.Conclusion Children with suspected BTDD should be tested by hematuria tandem mass spectrometry as soon as possible.The tests for biotinidase activity and gene should be improved.

关 键 词：生物素 生物素酶缺乏症 BTD基因 代谢性酸中毒 

分 类 号：R725.8[医药卫生—儿科]