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

杨帆, 王立瑞, 李辛, 胡佳悦, 应令雯, 冯碧云, 李芸芸, 林卡娜, 佘佳笑, 李浩, 常国营, 王秀敏

中国当代儿科杂志 ›› 2024, Vol. 26 ›› Issue (5) : 512-517.

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中国当代儿科杂志 ›› 2024, Vol. 26 ›› Issue (5) : 512-517. DOI: 10.7499/j.issn.1008-8830.2310050
论著·罕见病研究

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

  • 杨帆1, 王立瑞2,3, 李辛2, 胡佳悦1, 应令雯2, 冯碧云2, 李芸芸1, 林卡娜1, 佘佳笑1, 李浩1, 常国营1,2, 王秀敏1,2
作者信息 +

Treatment of ornithine transcarbamylase deficiency in a child with glyceryl phenylbutyrate

  • YANG Fan, WANG Li-Rui, LI Xin, HU Jia-Yue, YING Ling-Wen, FENG Bi-Yun, LI Yun-Yun, LIN Ka-Na, SHE Jia-Xiao, LI Hao, CHANG Guo-Ying, WANG Xiu-Min
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文章历史 +

摘要

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327 μmol/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、56 μmol/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。

Abstract

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. The 6-year and 6-month-old male patient exhibited poor speech development, disobedience, temper tantrums, and aggressive behavior. Blood ammonia levels peaked at 327 μmol/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 56 μmol/L at 1, 2, and 3 months after starting GPB treatment, respectively. During treatment, blood ammonia was well-controlled without drug-related adverse effects. The patient showed improvement in developmental delays, obedience, temperament, and absence of aggressive behavior.

关键词

苯丁酸甘油酯 / 鸟氨酸氨甲酰基转移酶缺乏症 / 尿素循环障碍 / 高氨血症 / 药学监测 / 儿童

Key words

Glyceryl phenylbutyrate / Ornithine aminotransferase deficiency / Urea cycle disorder / Hyperammonemia / Pharmacological monitoring / Child

引用本文

导出引用
杨帆, 王立瑞, 李辛, 胡佳悦, 应令雯, 冯碧云, 李芸芸, 林卡娜, 佘佳笑, 李浩, 常国营, 王秀敏. 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[J]. 中国当代儿科杂志. 2024, 26(5): 512-517 https://doi.org/10.7499/j.issn.1008-8830.2310050
YANG Fan, WANG Li-Rui, LI Xin, HU Jia-Yue, YING Ling-Wen, FENG Bi-Yun, LI Yun-Yun, LIN Ka-Na, SHE Jia-Xiao, LI Hao, CHANG Guo-Ying, WANG Xiu-Min. Treatment of ornithine transcarbamylase deficiency in a child with glyceryl phenylbutyrate[J]. Chinese Journal of Contemporary Pediatrics. 2024, 26(5): 512-517 https://doi.org/10.7499/j.issn.1008-8830.2310050

参考文献

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基金

上海市“科技创新行动计划”医学创新研究专项(20MC1920400);浦东新区卫健委联合攻关项目(PW2021D-13)。

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