摘要
精氨酸血症是一种罕见的常染色体隐性遗传病,临床症状复杂多样,其病理机制尚未完全清楚,能量代谢障碍导致的神经元和少突胶质细胞损伤可能是其神经症状的原因。限制蛋白饮食、服用除氮药物等方式是治疗精氨酸血症的基本措施,但并不能完全阻止疾病的进展,酶替代或基因治疗是精氨酸血症的理想方案。基因编辑治疗尚未用于患者,肝移植是目前治疗精氨酸血症的有效手段。虽然肝移植并不能修复患者的基因缺陷,但可以补充精氨酸酶Ⅰ,使血浆精氨酸及其代谢产物降至正常,预防进行性损伤,缓解神经系统症状,提高生活质量。精氨酸血症发病率相对较低,人们对此尚缺乏完整认知。现就精氨酸血症的临床特点、发病机制、诊断及治疗进行综述,以期让更多人对精氨酸血症深入了解。
Argininemia is a rare autosomal recessive inherited disease,characterized by complex and diverse clinical symptoms.Its pathogenesis remains unclarified.The oligodendrocytes and neuro injury caused by energy meta-bolism disorders may account for neurosystem damage.The basic treatment methods for argininemia are the low-protein diet and nitrogen scavenger,which,however,cannot effectively prevent the progress of the neurological damage.Enzyme replacement or gene therapy is an ideal regimen for argininemia.However,gene editing therapy has not been applied in clinical practice.Liver transplantation(LT)is currently a practical option for argininemia treatment.Although LT cannot repair genetic defects in patients,but it can supplement arginase I,normalize plasma arginine and its metabolites,prevent progressive damage,relieve neurological symptoms,and improve the patients quality of life.For the low incidence of argininemia,it is not fully understood.In this paper,the clinical characteristics,pathogenesis,diagnosis,and treatment of argininemia were reviewed,in order to further more people′s understanding of this disease.
作者
崔滨
朱志军
孙丽莹
Cui Bin;Zhu Zhijun;Sun Liying(Liver Transplantation Center,Beijing Friendship Hospital,Capital Medical University,Beijing 101100,China;Department of Critical Liver Diseases,Liver Research Center,Beijing Friendship Hospital,Capital Medical University,Beijing 101100,China)
出处
《中华实用儿科临床杂志》
CAS
CSCD
北大核心
2022年第20期1592-1595,共4页
Chinese Journal of Applied Clinical Pediatrics
基金
首都卫生发展科研专项 (首发2020-1-2024)。
关键词
精氨酸血症
发病机制
治疗
肝移植
Argininemia
Pathogenesis
Treatment
Liver transplantation
