Abstract:

Objective: To study the rescue methods of non-diabetic ketoacidosis caused by β-ketothiolase deficiency. Methods: One case of β-ketothiolase deficiency who suffered three episodes of non-diabetic ketoacidosis was reported. Clinical symptoms, auxiliary examination results and rescue methods of acidosis were retrospectively reviewed. The treatment strategies of non-diabetic ketoacidosis rescuing were summarized and literatures were reviewd. Results: A 5 23/30 months old boy was admitted to the Children's Hospital of Chongqing Medical University on May 31,2013，because of "diarrhea 3 days, spasm 3 hours".The blood series mass spectrometry indicated that the 3-hydroxybutyl carnitine was increased (58.71 μmol·L-1); the urine gas phase mass spectra showed a significant increase (2 591.6 μmol·L-1), with the 3-hydroxypropyl acid (20.3 μmol·L-1), and acetyl glycine increased (34.9 μmol·L-1) and the T2 gene mutation was presented as T2 gene mutation, which confirmed the deficiency of beta-ketone thiolysis in the first hospitalization. He suffered three episodes of non-diabetic ketoacidosis respectively at the age of 5, 8 and 26 months .All three episodes were accompanied by gastrointestinal symptoms, deep breathing, mild dehydration and altered consciousness. The pH, HCO3-, urine acetone bodies and blood sugar were (7.15, 7.09, 7.03), (3.8, ＜ 3, 4.8) mmol·L-1, (3+, 3+, 3+), (4.3, 5.1, 4.7) mmol·L-1 respectively.The boy was treated with continuous hemodiafiltration in the first hospitalization, which lasted 17 hours, with ketoacidosis corrected partly. The ketoacidosis was corrected completely until 8 hours after using insulin, which was used 81 hours after admission.The time of correction of acidosis, the dosage of 5% sodium bicarbonateand and insulin dosage were (89, 60, 21) h, (24, 2.5, 3) mL·kg-1, (0.079, 0.078, 0.081) U·kg-1·h-1 respectively. Conclusion: For NDKA treatment, insulin is effective, CRRT is not effective, and the use of sodium bicarbonate should be prudent.