苯丁酸甘油酯治疗鸟氨酸氨甲酰转移酶缺乏症2例的初步研究  

Preliminary study of glyceryl phenylbutyrate therapy for Ornithine transcarbamylase deficiency and a literature review

作　　者：周朵[1] 商晓红 乔玉 程艺 余紫楠 黄新文[1] Zhou Duo;Shang Xiaohong;Qiao Yu;Cheng Yi;Yu Zinan;Huang Xinwen(Department of Genetics and Metabolism,the Children′s Hospital Affiliated to Zhejiang University School of Medicine,National Clinical Research Center for Child Health,National Children′s Regional Medical Center,Hangzhou,Zhejiang 310052,China;Department of Pediatric Endocrinology,Shandong Provincial Hospital Affiliated to Shandong First Medical University,Jinan,Shandong 250021,China)

机构地区：[1]浙江大学医学院附属儿童医院遗传与代谢科国家儿童健康与疾病临床医学研究中心国家儿童区域医疗中心,杭州310052 [2]山东第一医科大学附属省立医院东院儿科内分泌综合科,济南250021

出　　处：《中华医学遗传学杂志》2023年第9期1107-1112,共6页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(82073560)。

摘　　要：目的探讨苯丁酸甘油酯(GPB)治疗鸟氨酸氨甲酰转移酶缺乏症(OTCD)的有效性和安全性。方法选取2020年9月16日与2021年10月31日就诊的2例OTCD患儿为研究对象。观察2例OTCD患儿使用GPB治疗后的临床表现、血氨、肝酶、生长发育情况,结合文献检索分析GPB治疗尿素循环障碍的安全性和有效性。结果两例患儿经GPB治疗后,血氨和肝酶在3个月内均降至正常水平。患儿2的运动发育有所改善;患儿1出现一过性手心油脂味和食欲下降,未出现其他不良反应。文献分析显示GPB治疗期间患儿血氨总暴露量更低,高氨血症危象的年发生率降低,蛋白实际摄入量有所增加,不良事件减少。结论OTCD患儿应用GPB治疗安全有效。Objective To evaluate the efficacy and safety of glyceryl phenylbutyrate(GPB)therapy for patients with Ornithine transcarbamylase deficiency(OTCD).Methods Two children with OTCD were selected as the study subjects,and their clinical manifestations,blood ammonia,liver enzymes,growth and development information following the treatment with GPB were retrospectively analyzed.A literature review was also carried out by searching the PubMed database for studies on the GPB treatment for urea cycle disorders.Results With the GPB treatment,the blood ammonia and liver enzyme level in both patients have decreased to the normal range within 3 months.Motor development in child 2 has improved.No adverse reaction was noted,except for transient palmar greasy smell and loss of appetite in child 1.Analysis of the literature showed that patients had lower ammonia exposure,lower annual incidence of hyperammonemic crisis,more actual protein intake and fewer adverse events during GPB treatment.Conclusion GPB is safe and effective for the treatment of OTCD.

关 键 词：鸟氨酸氨甲酰转移酶缺乏症 尿素循环障碍 苯丁酸甘油酯 

分 类 号：R725[医药卫生—儿科]