氨甲酰磷酸合成酶1缺乏症的诊断与治疗研究进展

Advances in the diagnosis and treatment of carbamoyl phosphate synthetase 1 deficiency

氨甲酰磷酸合成酶1(carbamogl phosphate synthe tose 1,CPS1)缺乏症为尿素循环障碍的一个少见类型,引起不同程度的高氨血症及代谢性脑病及肝病。如果不能及时正确地治疗,预后不良,致残率及病死率较高。现就CPS1缺乏症的病因及发病机制、临床特征、诊断、饮食、药物及肝移植治疗进展进行总结,进一步提高临床医师对该病的认识。

Carbamoyl phosphate synthetase 1(CPS1)deficiency is a rare type of urea cycle disorders,resulting in varied metabolic encephalopathy and liver dysfunctions due to hyperammonemia. If not timely and correct treatment,the prognosis is poor. The rates of disability and mortality of the patients are high. This study aims to review the advances in the research on pathogenesis, clinical characteristics,diagnosis,dietary intervention,pharmaceutic treatment and liver transplantation of CPS1 deficiency,in order to further improve the understanding of the disorder.