成人Ⅱ型瓜氨酸血症一例临床特征、治疗及随访分析  

Clinical characteristics, therapy and follow-up of adult-onset type Ⅱ citrullinemia： one case report

作　　者：尤桦菁 吴超[1] 李洵桦[1] You Huajing;Wu Chao;Li Xunhua(Department of Neurology,National Key Clinical Department and Key Discipline of Neurology,Guangdong Provincial Engineering Center for Major Neurological Disease Treatment,the First Affiliated Hospital,Sun Yat-sen University,Guangzhou 510080,China)

机构地区：[1]中山大学附属第一医院神经科、国家临床重点专科、广东省神经系统重大疾病诊治工程技术研究中心,广州510080

出　　处：《中华神经科杂志》2018年第7期533-539,共7页Chinese Journal of Neurology

基　　金：国家自然科学基金面上项目（81171070）;广东省公益研究与能力建设专项资金项目（20148030301035）;广东省协同创新与平台环境建设专项资金项目（20158050501003）;广州市科技计划项目（201604020010）;广东省科技计划项目（2017A030303012）

摘　　要：目的回顾性分析1例成人Ⅱ型瓜氨酸血症（CTLN2）患者的诊断治疗过程，总结其临床和治疗特点。方法收集中山大学附属第一医院神经科2015年12月9日收治的1例CTLN2患者治疗前后的临床资料，包括病史、体格检查和相关辅助检查结果，以及确定诊断后相对应的治疗方案和长期随访结果。结果患者男性，23岁，因＂反复精神行为异常1年余＂就诊，MMSE评分为16分，血清转氨酶、血氨及瓜氨酸升高，腹部CT提示脂肪肝，头颅MRI呈脑水肿改变，经基因检测提示SLC25A13基因851－854delGTAT纯合致病突变，予以精氨酸降血氨治疗，2年随访期间无再发精神行为异常，转氨酶及血氨维持在正常范围内，精氨酸逐渐减量至今。结论对于反复发作性精神行为异常、转氨酶及血氨升高的患者，需考虑CTLN2。口服精氨酸配合高蛋白高脂肪低碳水化合物饮食可有效改善预后。ObjectiveTo analyze the diagnosis and therapy of adult-onset type Ⅱ citrullinemia （CTLN2） and compare the clinical data before and after treatment.MethodsThe clinical data of one patient of CTLN2 from Department of Neurology, the First Affiliated Hospital, Sun Yat-sen University on 9th December 2015 were collected. Treatment plan was formulated and adjusted by long-term follow-up.ResultsThe patient was a 23-year-old male, complaining of recurrent mental and behavior disorders. MMSE score was 16. Blood transaminase, ammonia and citrulline were elevated and abdomen CT showed fatty liver disease. Cranial MRI showed encephaledema and SLC25A13 gene analysis showed 851-854delGTAT homozygous mutation. Arginine was given for treatment and reduced gradually. In two years of follow-up, the patient had no longer suffered from mental and behavior disorders. Blood transaminase and ammonia remained normal.ConclusionsThe diagnosis of CTLN2 should be considered when a patient suffers from recurrent mental and behavior disorders, elevated blood transaminase and ammonia. Arginine along with high protein, high fat and low carbohydrates diet can improve prognosis effectively.

关 键 词：瓜氨酸血症 精神行为异常 精氨酸 随访 

分 类 号：R589[医药卫生—内分泌]