ISSN 1674-3865  CN 21-1569/R
主管：国家卫生健康委员会
主办：中国医师协会
　　　辽宁省基础医学研究所
　　　辽宁中医药大学附属医院
中国中西医结合儿科学

中国中西医结合儿科学 ›› 2019, Vol. 11 ›› Issue (3): 229-232.doi: 10.3969/j.issn.1674-3865.2019.03.013

• 临床研究 • 上一篇    下一篇

DBT基因突变型儿童枫糖尿病

冯伟，田青   

  1. 300070天津，天津医科大学2018级儿科学专业研究生（冯伟）；300192天津，天津市第一中心医院肝胆外科（田青）
  • 收稿日期:2019-03-13 出版日期:2019-06-25 上线日期:2019-06-25
  • 通讯作者: 田青，E-mail：doctorqing@126.com
  • 作者简介:冯伟（1994-），男，天津医科大学2018级硕士研究生在读。研究方向：新生儿与腹部外科疾病的诊治

Maple syrup urine disease of DBT gene mutation type in children

FENG Wei，TIAN Qing   

  1. Tianjin Medical University, Tianjin 300070,China
  • Received:2019-03-13 Published:2019-06-25 Online:2019-06-25
  • Contact: TIAN Qing，E-mail：doctorqing@126.com

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摘要： 目的:探讨DBT基因突变型儿童枫糖尿病的临床特点及诊疗。方法:回顾性分析1例基因学诊断为枫糖尿病患儿的临床表现、基因型及诊疗过程。结果:患儿男，11 d，主要表现为纳差、尿液有类似枫糖的气味，血串联质谱、尿气相色谱及头颅MRI均符合枫糖尿病相关改变，基因检测发现其父母为c.1132C＞T（p.378X）的杂合突变，患儿为c.1132C＞T（p.378X）的纯合突变，及时予以特殊配方奶粉及维生素B1治疗后好转。结论:DBT基因突变型儿童枫糖尿病临床表现为纳差及尿液中特殊气味，血串联质谱、尿有机酸、头颅MRI及基因分析有助于明确诊断，及时予以特殊配方奶粉、维生素B1治疗可改善预后。

关键词: 枫糖尿病, DBT基因, 维生素B1, 儿童

Abstract: Objective:To investigate the clinical characteristics, diagnosis and treatment of maple syrup urine disease of DBT gene mutation type in children.Methods:The clinical manifestations, genotype, diagnosis and treatment of a child genetically diagnosed with maple syrup urine disease were analyzed retrospectively.Results:Being male, 11 days, the child mainly showed anorexia and his urine had a smell similar to maple sugar. The blood tandem mass spectrometry, urine gas chromatography and head MRI showed the charges consistent with the related changes of maple syrup urine disease. Gene analysis showed that his parents were of the heterozygous mutation of c.1132C>T(p.378X), and the child was of the homozygous mutation of c.1132C>T(p.378X). Special formula milk powder and vitamin B1 were given in time and he became better.Conclusion:Maple syrup urine disease of DBT gene mutation type in children is characterized by anorexia and special smell in urine. Blood tandem mass spectrometry, urinary organic acid, head MRI and gene analysis are helpful to make a definite diagnosis. The treatment with special formula milk powder and vitamin B1 can improve prognosis.

Key words: Maple syrup urine disease, DBT gene, Vitamin B1, Children