迟发型鸟氨酸氨甲酰转移酶缺乏症二例临床研究  

Clinical research of two cases of late-onset ornithine carbamoyltransferase deficiency

作　　者：孙媛[1] 李雪梅[2] 张同霞[1] 李多凌 纪坤乾 焉传祝[1] 赵玉英[1] Sun Yuan;Li Xuemei;Zhang Tongxia;Li Duoling;Ji Kunqian;Yan Chuanzhu;Zhao Yuying(Department of Neurology,Qilu Hospital of Shandong University,Jinan 250012,China;Department of Neurology,Affiliated Hospital of Weifang Medical University,Weifang,Shandong 261031,China)

机构地区：[1]山东大学齐鲁医院神经内科,济南250012 [2]潍坊医学院附属医院神经内科,山东潍坊261031

出　　处：《中华神经科杂志》2019年第5期399-405,共7页Chinese Journal of Neurology

摘　　要：目的探讨迟发型鸟氨酸氨甲酰转移酶缺乏症(OTCD)的临床特点,以提高临床医生对此病的认识。方法收集山东大学齐鲁医院神经内科于2017年11月至2018年2月收治的、基因确诊的2例迟发型OTCD患者的临床及治疗、随访资料并进行分析。结果例1为17岁男性,因"发作性头晕、呕吐4个月,精神异常、抽搐3 d"来诊,入院前3 d在当地医院即发现肝功能损伤、呼吸性碱中毒、血氨升高达434 μmol/L,给予控制癫痫、保肝药物及精氨酸静脉滴注,血氨渐降,后又反弹并出现昏迷及呼吸衰竭,入院后给予血液透析后血氨回降至180 μmol/L,后又再次升至2 998 μmol/L,患者于入院第4天死亡。例2为15岁男性,因"发作性头晕、呕吐、反应迟钝及嗜睡20 d"来诊,入院前在当地医院即发现肝功能损伤及血氨升高达600 μmol/L,给予静脉应用精氨酸及保肝治疗后好转,入院后查血氨、肝功能及尿有机酸和血酯酰肉碱及氨基酸均正常,给予限制蛋白质饮食后未再复发。2例患者发作期颅脑MRI均显示局限于双侧额叶及岛叶皮质的细胞毒性水肿,基因检测结果同为OTC基因c.119G>A(p.R40H)错义突变,其母均为携带者。结论对不明原因的高氨血症以及以额叶、岛叶皮质受累为主的急性脑病,要警惕以OTCD为代表的尿素循环障碍,早期诊断、合理治疗是改善预后的关键。Objective To explore the clinical characteristics of late-onset ornithine carbamoyltransferase deficiency (OTCD) in order to improve the clinicians′ understanding of this disease. Methods The clinical, therapeutic and follow-up data of two patients with late-onset OTCD diagnosed in the Department of Neurology, Qilu Hospital of Shandong University from November 2017 to February 2018 were collected and analyzed. Results Case 1 is a 17-year-old male who was admitted into Qilu Hospital with recurrent dizziness and vomiting for 4 months, sudden mental abnormality and convulsion for 3 days. The liver dysfunction, respiratory alkalosis and hyperammonemia (434 μmol/L) had been found before his admission. His blood ammonia fluctuated obviously from 180 μmol/L to 2 998 μmol/L, though he was given hemodialysis and arginine infusion, and died on the fourth day after admission. Case 2 is a 15-year-old male, complained with recurrent dizziness, vomiting, bluntness and somnolence for 20 days. He was found with hyperammonemia (600 μmol/L) and liver dsyfunction in a local hospital. He was getting better after intravenous administration of arginine and liver protective drugs. After admission, the blood ammonia, liver function and amino acids, acylcarnitine profiling in dried blood spots, and organic acid analysis in urine were normal, and he has not recurred since restriction of protein diet. Brain magnetic resonane imaging of both patients showed cytotoxic edema of bilateral frontal lobe and insular cortex, and their genetic detection both showed c.119G>A(p.R40H) hemizygous pathogenic mutation of OTC gene inherited from their respective mothers. Conclusion Unexplained hyperammonemia and acute encephalopathy with insular and frontal cortical involvement should be on the alert to the urea cycle disorders, especially OTCD. Early diagnosis and reasonable treatment are the key to changing the prognosis.

关 键 词：尿素循环障碍 先天性 鸟氨酸氨甲酰转移酶缺乏症 高氨血症 

分 类 号：R596[医药卫生—内科学] R747.9[医药卫生—临床医学]