β-酮硫解酶缺乏致非糖尿病性酮症酸中毒救治1例并文献复习

发布时间：2018-07-01 08:29

本文选题：β-酮硫解酶缺乏症 + 酮症酸中毒　；参考：《中国循证儿科杂志》2017年04期

【摘要】：目的探讨β-酮硫解酶缺乏致非糖尿病性酮症酸中毒(NDKA)的救治方法。方法报告1例β-酮硫解酶缺乏症患儿的3次NDKA发作,收集其临床症状、辅助检查结果和酸中毒抢救方案。文献复习儿童NDKA的救治策略。结果患儿男,5月23 d,因"腹泻3 d,抽搐3 h"于2013年5月31日入重庆医科大学附属儿童医院,血串联质谱3-羟基丁酰肉碱增高(58.71μmol·L~(~(-1)))、尿气相质谱示3-羟基丁酸显著增高(2 591.6μmol·L~(-1)),3-羟基丙酸(20.3μmol·L~(-1))和乙酰甘氨酸(34.9μmol·L~(-1))增高;基因测序,T2基因突变(c.456CT),确诊β-酮硫解酶缺乏症。患儿于5、8和26月龄出现3次NDKA发作,均伴消化道症状、深大呼吸、轻度脱水及意识改变;3次入院时p H分别为7.15、7.09和7.03,HCO3-(mmol·L~(~(-1)))分别为3.8、3和4.8,尿酮体均3+,血糖(mmol·L~(-1))为4.3、5.1和4.7;首次NDKA发作时行连续性血液透析滤过(CHDF)酸中毒纠正不理想,入院81 h改胰岛素,89 h时酸中毒完全纠正;3次NDKA发作治疗中,5%Na HCO3剂量(m L·kg~(-1))分别为24、2.5和3、胰岛素剂量(U·kg~(-1)·h~(-1))分别为0.079、0.078和0.081,入院至酸中毒纠正时间(h)为89、60和21。结论β-酮硫解酶缺乏症NDKA发作治疗,CHDF疗效欠佳,Na HCO3的使用应谨慎,胰岛素疗效确切。
[Abstract]:Objective to investigate the treatment of non-diabetic ketoacidosis (NDKA) caused by 尾-ketothiolase deficiency. Methods three episodes of NDKA were reported in a child with 尾 -ketothiolase deficiency. The clinical symptoms, the results of auxiliary examination and the rescue program of acidosis were collected. Literature review of treatment strategies for children with NDKA. Results the children were admitted to the Children's Hospital of Chongqing Medical University on May 31, 2013 because of "diarrhea for 3 days and convulsions for 3 hours". The levels of 3-hydroxybutylol carnitine (58.71 渭 mol L ~ (-1) and 3-hydroxybutyric acid (2 591.6 渭 mol L ~ (-1) and acetylglycine (34.9 渭 mol L ~ (-1) were significantly increased by tandem mass spectrometry (MS / MS) (58.71 渭 mol / L ~ (-1), and 尾 -ketothiolase deficiency (尾 -ketothiolase deficiency) was confirmed by sequencing T _ 2 gene mutation (c. 456CT). There were 3 episodes of NDKA at the age of 5, 8 and 26 months, all with digestive tract symptoms, deep respiration, mild dehydration and consciousness change. The pH was 7.15 卤7.09 and 7.03 mmol L ~ (-1), respectively, and the urinary ketone body was 3. 8% and 4. 8%, respectively, at the time of admission, the mean pH was 7. 15 卤7. 09 and 7. 03% HCO3- (mmol L ~ (-1) = 3. 8 and 4. 8, respectively). Blood glucose (mmol L ~ (-1) was 4. 3 卤5. 1 and 4. 7, and continuous hemodiafiltration (mmol) acidosis was not well corrected during the first attack of NDKA. After 81h treatment, acidosis was completely corrected for 3 NDKA seizures. The dose of NaHCO3 (mL kg ~ (-1) was 242.5 and 3, the dose of insulin (U kg-1) was 0.079 ~ (-1) h ~ (-1) and 0.081, respectively. The time from admission to acidosis correction was 89 ~ 60 and 21 ~ (-1) respectively. Conclusion the use of 尾 -ketothiolase deficiency NDKA in the treatment of CHDF should be cautious and insulin effective.
【作者单位】：重庆医科大学附属儿童医院;
【分类号】：R725.8

【相似文献】