以心动过速为首发症状的先天性高乳酸血症1例并文献复习

A case of congenital hyperlactic acid with tachycardia as the first symptom and literature review

儿童持续乳酸血症通常见于严重的遗传代谢缺陷,病因为丙酮酸代谢障碍及糖原异生系统中的酶活性缺乏和线粒体呼吸链代谢障碍,表现为慢性酸中毒,应激甚至激发代谢危象,常涉及多系统,临床表现复杂,诊断较为困难。报道1例郑州大学附属儿童医院收治的先天性高乳酸血症患儿,临床表现以持续心动过速、心肌酶异常、高乳酸血症、高血氨、尿有机酸增高,经3个月余的纠正酸中毒、维生素替代等缓解病情治疗,基因变异诊断明确后家属消极治疗,随访3月内病情进行性加重,最后出现代谢危象以多脏器衰竭放弃治疗。临床上对不明原因的顽固性窦性心动过速、心肌酶异常、高乳酸血症、高氨血症、尿有机酸增高患儿,应及时完善尿代谢筛查、血遗传代谢病氨基酸和酰基肉碱谱筛查及线粒体环基因测序,排除先天性有机酸血症及氨基酸代谢异常的遗传代谢病。

Persistent lactic acidemia in children is usually seen in severe genetic metabolic defects,caused by pyruvate metabolism disorder,lack of enzyme activity in the gluconeogenesis system and mitochondrial respiratory chain metabolism disorder,manifested as chronic acidosis,and even metabolic crisis.The performance is complex and the diagnosis is more difficult.A child with congenital hyperlactic acidemia admitted to the Children’s Hospital affiliated to Zhengzhou University was reported.The clinical manifestations were continuous tachycardia,abnormal myocardial enzymes,hyperlactic acid,hyperammonia,and increased urinary organic acid,and after more than 3 months of correction of acidosis,vitamin replacement and other alleviative treatment,the family members were treated negatively after the genetic diagnosis variants was confirmed.The condition was progressively aggravated within 3 months,and finally a metabolic crisis was abandoned with multi-organ failure.Clinically,for children with unexplained intractable sinus tachycardia,abnormal myocardial enzymes,hyperlactic acidemia,hyperammonemia,and increased urinary organic acid,urine metabolism screening,blood genetic metabolic diseases,amino acids and acyl groups should be perfected in time Carnitine profile screening and mitochondrial ring gene sequencing to rule out inherited metabolic diseases such as congenital organic acidemia and abnormal amino acid metabolism.