瓜氨酸血症发病机制、早期筛查方法及治疗对预后影响的研究进展  

Latest progress in the analysis of pathogenesis of citrullinemia,early screening methods and the impact of clinical treatment on prognosis

作　　者：闫燕 武秀梅 赵玉娟 陈璐[1] YAN Yan;WU Xiumei;ZHAO Yujuan(Department of Neonatology,Xi’an Children’s Hospital Affiliated to Xi’an Jiaotong University,Shaanxi,Xi’an 710003,China)

机构地区：[1]西安交通大学附属西安市儿童医院新生儿科,西安市710003

出　　处：《河北医药》2024年第13期2037-2042,共6页Hebei Medical Journal

摘　　要：瓜氨酸血症属于一种常染色体隐性遗传性疾病,临床多表现为血瓜氨酸浓度升高,导致系列尿素循环障碍性疾病。目前,临床上对于瓜氨酸血症发病机制尚未阐明,可分为Ⅰ型、Ⅱ型基因突变位点两种,且二者存在明显差异性。无论Ⅰ型、Ⅱ型瓜氨酸血症均表现为血清瓜氨酸水平异常升高,临床症状、发病时间存在明显差异,婴儿期发作多出现胆汁淤积性黄疸,可伴有肝脏轻度肿大;成人发作多表现为消瘦、饮食偏好等,严重者会引起记忆力障碍、意识混乱等,成为我国居民死亡的原因之一。而瓜氨酸血症临床多采用饮食治疗、对症治疗及肝脏移植等,不同治疗方法各有优缺点,多数患者能从中获益。因此,本综述分析瓜氨酸血症的发病机制、临床表现,探讨瓜氨酸血症的早期筛查方法、治疗方法及不同方法对预后的影响。Citrullinemia is an autosomal recessive hereditary disease,with the clinical manifestations of increased blood concentration of citrulline,leading to a series of urea cycle disorders.At present,the pathogenesis of citrullinemia has not been elucidated clinically.It can be classified into typeⅠand typeⅡ,showing obvious differences between the two.Both type I and typeⅡcitrullinemia are manifested by abnormally elevated serum citrulline levels,with significant differences in clinical symptoms and onset time.Cholestatic jaundice often occurs in infancy,which may be accompanied by mild liver swelling.Adult onsets of citrullinemia are mostly manifested as weight loss,dietary preferences,etc.In severe cases,it causes memory impairment and confusion,resulting in a high mortality.Current clinical treatments of citrullinemia mainly include diet treatment,symptomatic treatment and liver transplantation.Different treatment methods have their own advantages and disadvantages,and most patients can benefit from them.This review summarized the pathogenesis and clinical manifestations of citrullinemia,and discussed the early screening methods and treatment methods of citrullinemia on the prognosis.

关 键 词：瓜氨酸血症 发病机制 临床表现 筛查方法 治疗方法 预后 

分 类 号：R596.1[医药卫生—内科学]