Abstract:

Objective To summarize the clinical characteristics of 17 cases of children with ureacirculation disorder who are scheduled for liver transplantation treatment，in order to improve the understandingof the disease. Methods The clinical data，laboratory examination data and imaging data of 17 children withurea circulation disorder who were treated in Beijing Friendship Hospital from January 2020 to January 2025 wereretrospectively analyzed. The current neurological development status of the children was evaluated by Gesell development scale，and the clinical characteristics of urea circulation disorder and related factors affecting prognosiswere discussed. Results The clinical data of 17 cases of children with urea circulation disorder were analyzed. One case（1/17）had onset in neonatal period，and the onset age was 15 days. 16 cases（16/17）had onset in nonneonatal period，with an average age of（20.9 ± 13.8）months ；There were 7 male patients（7/17）and 10 female patients（10/17）. The children with acute onset mainly showed mental retardation，vomiting and disturbance of consciousness. Most of the children with chronic onset showed liver function damage and underdevelopment. Among the 17 cases，all cases were accompanied by varying degrees of elevated liver enzymes（100%），15 cases were accompanied by varying degrees of elevated blood ammonia（88.2%），12 cases were accompanied by varying degrees of coagulation dysfunction（70.6%），and 3 cases were accompanied by varying degrees of elevated lactic acid （17.6%）. Nine cases（52.9%）showed hepatomegaly by abdominal imaging. Among the 17 cases，13 cases completed the cranial imaging examination，of which 5 cases showed specific changes（1 case clearly suggested the possibility of metabolic encephalopathy），and 8 cases showed no obvious abnormalities. Among the 17 cases，8 cases of Gesell developmental scale showed that the nervous system was stunted，and 5 cases showed that at least one developmental energy region was in a marginal state. The level of blood ammonia were related to the prognosis of nervous system development. Genotype can help to judge the prognosis of patients and guide the next birth. Conclusion urea cycle disorders often occur in infants and young children. Due to the nonspecific clinical manifestations，treatment is oftendelayed due to misdiagnosis as other diseases，and most survivors have varying degrees of nervous system damage. Hyperammonemia and elevated transaminase usually indicate the possibility of such diseases. It is necessary to be vigilant in clinic，and actively improve the hematuria metabolism screening and gene detection can help to make a clear diagnosis and judge the prognosis as soon as possible. Active control of blood ammonia level can effectively prevent further aggravation of central nervous system damage. Early liver transplantation can improve the prognosis of patients. 

Key words:

Urea cycle disorder , Genetic metabolic diseases , Hyperammonemia , Genes , Gesell developmentscale

摘要：

目的 总结拟行肝移植治疗的 17 例尿素循环障碍儿童的临床特征，以提高对该病的全面认 识。 方法 回顾性分析 2020 年 1 月至 2025 年 1 月期间，首都医科大学附属北京友谊收治的拟行肝移植治疗的 17 例尿素循环障碍患儿的临床资料、实验室检查数据及影像学数据等结果，并通过 Gesell 发育量表对患儿当前的神经系统发育状况进行评估，探讨尿素循环障碍的临床特点及影响预后的相关因素。结果 对 17 例尿素循环障碍患儿的临床数据进行分析，新生儿期起病 1 例（1/17），起病年龄为 15 d，非新生儿期起病 16 例（16/17），起病平均年龄为（20.9±13.8）个月 ；男性患者 7 例（7/17），女性患者 10 例（10/17）。急性期起病患儿多表现为精神差、呕吐、意识障碍。慢性起病患儿多表现为肝功能损害、发育落后。17 例患儿均伴有不同程度的肝酶升高（100%），15 例伴有不同程度的血氨升高（88.2%），12 例伴有不同程度凝血功能异常（70.6%），3 例患儿伴有不同程度的乳酸升高（17.6%）。9 例患儿腹部影像学提示肝脏肿大（52.9%）。17 例患儿中 13 例完善头颅影像学检查，其中 5 例提示特异性改变（1 例明确提示代谢性脑病可能），8 例未见明显异常。17 例患儿中有 8 例 GESELL 发育量表评估提示神经系统发育迟缓，有 5 例提示至少一个发育能区处于边缘状态，血氨水平与神经系统发育预后相关。基因型可协助判断患者预后及指导下一胎的优生优育。 结论 尿素循环障碍常于婴幼儿期起病。由于临床表现无特异性，常因误诊为其他疾病而延误治疗，存活者大多有不同程度神经系统损伤。高氨血症及转氨酶升高通常提示此类疾病可能，临床需提高警惕，积极完善血尿代谢筛查及基因检测有助于尽快明确诊断及判断预后。积极控制血氨水平可有效预防中枢神经系统损害进一步加重。

关键词: 尿素循环障碍 , 遗传代谢性疾病 , 高氨血症 , 基因 , Gesell 发育量表