苯丁酸甘油酯治疗儿童鸟氨酸氨甲酰基转移酶缺乏症1例

Treatment of ornithine transcarbamylase deficiency in a child with glyceryl phenylbutyrate

苯丁酸甘油酯(glyceryl phenylbutyrate,GPB)是治疗鸟氨酸氨甲酰基转移酶缺乏症(ornithine transcarbamylase deficiency,OTCD)的长期管理药物,可有效控制高氨血症,但国内使用该药的经验匮乏。该文回顾性分析上海交通大学医学院附属上海儿童医学中心1例诊断为OTCD的患儿资料,并进行相关文献复习。该患儿确诊后使用GPB治疗,随后进行疗效随访和药学监测。患儿,男,6岁6个月,语言发育差,不听指令,脾气暴躁并伴有攻击性行为。监测血氨最高327μmol/L;尿有机酸分析提示尿嘧啶水平升高;头颅磁共振成像示双侧大脑半球广泛异常信号;基因检测发现OTC基因新生突变(c.241T>C,p.S81P)。予以GPB治疗后1、2、3个月左右的血氨分别为43、80、56μmol/L。患儿治疗期间血氨控制良好,未见与药物相关的不良反应,发育落后情况较前改善,可听指令,脾气好转,无攻击性行为。

Glyceryl phenylbutyrate(GPB)serves as a long-term management medication for Ornithine transcarbamylase deficiency(OTCD),effectively controlling hyperammonemia,but there is a lack of experience in using this medicine in China.This article retrospectively analyzes the case of a child diagnosed with OTCD at Shanghai Children's Medical Center,Shanghai Jiao Tong University School of Medicine,including a review of related literature.After diagnosis,the patient was treated with GPB,followed by efficacy follow-up and pharmacological monitoring.The6-year and 6-month-old male patient exhibited poor speech development,disobedience,temper tantrums,and aggressive behavior.Blood ammonia levels peaked at 327μmol/L;urine organic acid analysis indicated elevated uracil levels;cranial MRI showed extensive abnormal signals in both cerebral hemispheres.Genetic testing revealed de novo mutation in the OTC gene(c.241T>C,p.S81P).Blood ammonia levels were approximately 43,80,and 56μmol/L at 1,2,and 3months after starting GPB treatment,respectively.During treatment,blood ammonia was well-controlled without drugrelated adverse effects.The patient showed improvement in developmental delays,obedience,temperament,and absence of aggressive behavior.