以痫性发作为表现成人起病的瓜氨酸血症Ⅱ型1例
A case report of type Ⅱ citrullinemia in an adult with epileptic seizure onset
刘倩 1黄叶青 1游荣娇 1刘爱群 1洪铭范 1彭忠兴1
作者信息
- 1. 广东药科大学附属第一医院神经内科(广州 510080)
- 折叠
摘要
对SLC25A13基因纯合变异引起以痫性发作为表现的成人起病的瓜氨酸血症Ⅱ型(adult-onset typeⅡcitrullinemia,CTLN2)1例进行回顾性分析.患者,男,28岁,反复四肢抽搐4年余,再发加重2个月,平素喜食花生及肉类.头颅MRI检查未见异常,予抗癫痫治疗效果不佳,进一步查血转氨酶、血氨和瓜氨酸升高,基因检测显示SLC25A13基因c.851_854del纯合致病突变,诊断为CTLN2,予高蛋白、高脂肪、低糖饮食和精氨酸治疗,随访半年无痫性发作.对反复痫性发作伴有特殊饮食嗜好者应注意CTLN2可能,基因检测对CTLN2的诊断具有重要作用,可为临床诊治提供依据.
Abstract
A retrospective analysis was performed on one case of adult-onset type Ⅱcitrullinemia(CTLN2)caused by homozygous mutations of SLC25A13 genes.The patient,a 28-year-old male,had repeated limb convulsions for more than 4 years and worsened for 2 months.He usually liked to eat peanuts and meat.The brain MRI examination showed no abnormality,and anti-epileptic treatment was not effective.Further examination of blood aminotransferase,blood ammonia and citrulline were elevated,genetic testing showed that the SLC25A13 gene c.851_854del homozygous pathogenic mutation,the diagnosis was CTLN2,and the treatment was treated with a high-protein,high-fat,low-sugar diet and arginine,and there were no seizures followed up for half a year.Patients with recurrent seizures with special dietary preferences should be paid attention to the possibility of CTLN2,and genetic testing plays an important role in the diagnosis of CTLN2 and provides a basis for clinical diagnosis and treatment.
关键词
瓜氨酸血症/高氨血症/痫性发作/希特林蛋白/尿素循环障碍/基因突变/SLC25A13基因Key words
Citrullinemia/Hyperammonemia/Epileptic seizure/Citrin protein/Urea cycle disorders/Genetic mutation/SLC25A13 gene引用本文复制引用
基金项目
教育部产研合作协同育人项目(22087043062156)
广东药科大学本科教学质量与教学改革工程校级项目(2022)(45)
出版年
2024
NETL
NSTL
万方数据