ĐẶC ĐIỂM LÂM SÀNG, XÉT NGHIỆM VÀ KẾT QUẢ ĐIỀU TRỊ RỐI LOẠN CHUYỂN HOÁ CHU TRÌNH URE THỂ SƠ SINH

Abstract

Urea cycle disorder (UCD) ​​is a condition of increased blood ammonia due to deficiency of enzymes necessary for urea cycle metabolism. Early diagnosis and treatment reduce mortality and sequelae. Objective: Describe the phenotypic characteristics and treatment outcomes of neonatal URD from 2010 to September 2021. Results: 26 patients from 15 families with a median age of onset of 3 days (1-4 days). 33.3% of patients had a family history. Reason for examination: altered consciousness, refusal to breastfeed/poor feeding, vomiting. Condition at admission: 93.2% unconsciousness, 57.7% vomiting and 53.8% poor feeding, 100% increased blood ammonia, increased lactate, 96.1% decreased prothrombin time, 61.6% increased transaminase. Treatment with blood ammonia lowering drugs, hemofiltration and glucose infusion saved 38.5% of patients. Conclusion: Ammonia testing is necessary in sick newborns to get early diagnosis of urea cycle disorders. Glucose infusion, blood ammonia lowering drugs and hemofiltration have good outcome.