本文選題：β-酮硫解酶缺乏癥 + 酮癥酸中毒�。� 參考：《中國(guó)循證兒科雜志》2017年04期

【摘要】：目的探討β-酮硫解酶缺乏致非糖尿病性酮癥酸中毒(NDKA)的救治方法。方法報(bào)告1例β-酮硫解酶缺乏癥患兒的3次NDKA發(fā)作,收集其臨床癥狀、輔助檢查結(jié)果和酸中毒搶救方案。文獻(xiàn)復(fù)習(xí)兒童NDKA的救治策略。結(jié)果患兒男,5月23 d,因"腹瀉3 d,抽搐3 h"于2013年5月31日入重慶醫(yī)科大學(xué)附屬兒童醫(yī)院,血串聯(lián)質(zhì)譜3-羥基丁酰肉堿增高(58.71μmol·L~(~(-1)))、尿氣相質(zhì)譜示3-羥基丁酸顯著增高(2 591.6μmol·L~(-1)),3-羥基丙酸(20.3μmol·L~(-1))和乙酰甘氨酸(34.9μmol·L~(-1))增高;基因測(cè)序,T2基因突變(c.456CT),確診β-酮硫解酶缺乏癥�；純河�5、8和26月齡出現(xiàn)3次NDKA發(fā)作,均伴消化道癥狀、深大呼吸、輕度脫水及意識(shí)改變;3次入院時(shí)p H分別為7.15、7.09和7.03,HCO3-(mmol·L~(~(-1)))分別為3.8、3和4.8,尿酮體均3+,血糖(mmol·L~(-1))為4.3、5.1和4.7;首次NDKA發(fā)作時(shí)行連續(xù)性血液透析濾過(CHDF)酸中毒糾正不理想,入院81 h改胰島素,89 h時(shí)酸中毒完全糾正;3次NDKA發(fā)作治療中,5%Na HCO3劑量(m L·kg~(-1))分別為24、2.5和3、胰島素劑量(U·kg~(-1)·h~(-1))分別為0.079、0.078和0.081,入院至酸中毒糾正時(shí)間(h)為89、60和21。結(jié)論β-酮硫解酶缺乏癥NDKA發(fā)作治療,CHDF療效欠佳,Na HCO3的使用應(yīng)謹(jǐn)慎,胰島素療效確切。
[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 鹵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 鹵7. 09 and 7. 03% HCO3- (mmol L ~ (-1) = 3. 8 and 4. 8, respectively). Blood glucose (mmol L ~ (-1) was 4. 3 鹵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.
【作者單位】： 重慶醫(yī)科大學(xué)附屬兒童醫(yī)院;
【分類號(hào)】：R725.8

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