Clinical Characteristics And Prognosis Of Urea Cycle Disorders

Objective:To explore the clinical characteristics of urea cycle disorders and to analyze the effect of relevant laboratory indexes on the prognosis of patients with urea cycle disorders.The relationship between laboratory results,genotypes and clinical phenotypes of urea cycle disorders were also discussed.Methods:The clinical data and laboratory results of the patients with urea cycle disorders hospitalized in Shenzhen Children’s Hospital of China Medical University from January2008 to December 2020 were analyzed retrospectively,and the effects of different laboratory indexes on the prognosis of the patients were compared.At the same time,the clinical data of patients with urea cycle disorders were summarized,and the characteristics of urea cycle disorders were discussed.Results:The clinical data of 20 patients with urea cycle disorders were analyzed,including9 cases of neonatal onset,11 cases of non-neonatal onset,15 cases of male patients,5 cases of female patients,11 cases of death and 9 cases of survival.Among the dead patients,7cases were newborn.In the neonatal group,the age of onset was 4.55±2.24 days,and the age of death was 10.83±9.54 days.In the non-neonatal group,the age of onset was 37.91±46.17 m,and the age of death was 70.50±42.52 m.Most of the patients with acute onset showed mental illness,vomiting and disturbance of consciousness.The most common manifestations of chronic onset are jaundice,abnormal liver function and underdevelopment.Compared with the laboratory indexes of the death group and the survival group,the laboratory indexes such as blood ammonia,glutamine,lactic acid and citrulline(P<0.05)had influence on the prognosis of the patients.MRS can be used to determine the content of metabolites in cerebrospinal fluid in acute stage,which can help early diagnosis.Genotype can help to judge the prognosis of patients.The main treatment is to control hyperammonemia,including limiting protein intake,ensuring energy intake,and supplementing arginine to promote metabolism.Hemodialysis can effectively help reduce blood ammonia and reduce the damage of central nervous system caused by hyperammonemia when the blood ammonia level is obviously high.Active liver transplantation can effectively prevent the damage of central nervous system from aggravating.Conclusion: Urea cycle disorders often occur in infancy,more common in male.The common clinical manifestations in acute stage are vomiting,convulsions,disturbance of consciousness,etc.,while in chronic stage,liver dysfunction and underdevelopment are the main manifestations.The prognosis of patients with neonatal onset is poor.Because the clinical manifestations are not specific,often misdiagnosed as other diseases and delayed treatment,more than neonatal death.Screening of hyperammonemia and related metabolites is of great significance for diagnosis.MRS can help early diagnosis of urea cycle disorders.Early liver transplantation can improve the prognosis of patients.