左卡尼汀治疗新生儿原发性肉碱缺乏症临床疗效评价

目的:探讨左卡尼汀治疗新生儿原发性肉碱缺乏症的临床效果。方法:回顾性分析2012年12月至2019年3月在我院新生儿疾病筛查中心确诊为原发性肉碱缺乏症(PCD)的18例新生儿左卡尼汀替代治疗效果,选取同期串联质谱筛查游离碱正常新生儿20例为对照组。患儿给予口服左卡尼汀起始剂量每日100 mg/kg替代治疗,2周后通过串联质谱技术检测血液酰基肉碱水平,比较PCD患儿治疗前后及对照组游离肉碱及各项酰基肉碱变化情况,根据患儿临床表现及游离肉碱水平调整左卡尼汀治疗剂量。结果:18例PCD组患儿治疗前血游离肉碱水平低于对照组(P<0.05);治疗后血游离肉碱及其他酰基肉碱水平均高于治疗前(P均<0.05),与正常新生儿比较差异均无统计学意义(P均>0.05)。目前18例患儿均在门诊随访,生长、智力及运动发育正常,血糖、血氨、肝功能、肌酸激酶以及心脏超声均未见异常;其中,10例继续给予左卡尼汀口服溶液100 mg/kg治疗,6例给予200 mg/kg,2例给予300 mg/kg。结论:左卡尼汀对PCD的治疗效果确切,但需根据患儿游离肉碱水平进行个体化用药。

Clinical Evaluation of Levocarnitine in the Treatment of Neonatal Primary Carnitine Deficiency

Objective: To investigate the clinical effects of levocarnitine in the treatment of neonatal primary carnitine deficiency. Methods: Retrospective analysis was performed on effect of levocarnitine replacement therapy in 18 newborns diagnosed as primary carnitine deficiency (PCD) in the newborn screening center of Liuzhou Maternity and Child Healthcare Hospital from Dec. 2012 to Mar. 2019, and 20 newborns with normal free alkali screened by tandem mass spectrometry were selected as the control group. Children were given oral levocarnitine replacement therapy at initial dose of 100 mg/kg per day, and blood acylcarnitine levels were measured by tandem mass spectrometry after two weeks. Changes of free carnitine and acyl carnitine in children with PCD were compared before and after treatment. The dosage of levocarnitine was adjusted according to the clinical manifestations and the levels of free carnitine. Results: The serum levels of free carnitine in 18 children with PCD before treatment was lower than those in the control group (P<0.05). After treatment, the levels of free carnitine and other acylcarnitine in 18 children with PCD were higher than those before treatment (P<0.05), and there was no significant difference compared with healthy newborns (P>0.05). At present, all the 18 children have been followed up in the outpatient department, the growth, intelligence and motor development are normal, and there are no abnormalities in blood glucose, blood ammonia, liver function, creatine kinase and cardiac ultrasound. Of the 18 children, 10 cases continued treatment with 100 mg/kg of oral solution of levocarnitine, 6 cases were given 200 mg/kg, and 2 cases were given 300 mg/kg. Conclusion: Levocarnitine is effective in the treatment of PCD, which needs to be individualized according to the levels of free carnitine in children.