摘要
目的探讨尿素循环障碍的发生情况、病因、发病、临床经过与实验室特点。方法以254例高氨血症患儿中发现的26例(10.2%)尿素循环障碍为对象,通过血液氨基酸分析、气相色谱质谱联用尿有机酸分析、串联质谱法血液酯酰肉碱谱分析进行病因诊断,3例瓜氨酸血症Ⅱ型患儿通过肝脏病理分析进一步鉴别诊断。结果26例尿素循环障碍患儿中鸟氨酸氨甲酰基转移酶缺乏症15例(57.7%),瓜氨酸血症Ⅰ型5例(19.2%),瓜氨酸血症Ⅱ型3例(11.5%),精氨酸血症3例(11.5%)。26例中3例(11.5%)为新生儿期发病,13例(50.0%)为婴儿期发病,7例(26.9%)于1～3岁发病,3例(11.5%)为6～13岁起病。11例(42.3%)有异常家族史。入院原因为惊厥、智力运动落后、呕吐、意识障碍9例(34.6%),发作性呕吐、头痛、意识障碍8例(30.8%),肝功能异常6例(23.1%),3例(11.5%)瓜氨酸血症Ⅱ型表现为胆汁淤积性黄疸。患儿初诊时血氨58～259μmol/L,20例(76.9%)伴不同程度的肝损害。4例为死亡后确诊,21例(80.8%)接受了治疗,其中6例病情一度缓解,因急性高氨血症性脑病或消化道出血死亡,1例肝移植术后排异反应严重,合并感染死亡。14例好转,其中1例接受了活体部分肝移植,现术后2年,全身情况良好。结论尿素循环障碍是先天性高氨血症的主要原因,本组254例高氨血症中26例(10.2%)
Objective To investigate the incidences of urea cycle defects (UCDs) in the patients with hyperammonemia and study their etiology, clinical and laboratory features. Methods In the past 7 years, 26 cases (10.2%) of UCDs were detected from 254 patients with hyperammonemia. The etiological diagnoses were made by blood amino acids analysis, urinary organic acid analysis and blood acylcarnitine profile analysis. Three patients with citrullinemia type Ⅱ were further confirmed by liver pathological analysis and gene diagnosis.Results Among 26 cases with UCDs, 15 had ornithine transcarbamylase (OTC) deficiency, 5 had citrullinemia type Ⅰ, 3 had citrullinemia type Ⅱ and 3 patients had arginemia. The age of onset of the patients ranged from 3 days to 13 years. Three cases (11.5%)developed hyperammonemic encephalopathy during neonatal period. Thirteen (50.0%), 7 (26.9%) and 3 (11.5%) cases developed clinical symptoms at the age of 1 to 12 months, 1 to 3 years and 6 to 13 years, respectively. Positive family history was found in 11 cases (42.3%). Among 26 patients with UCDs, 9 (34.6%) were hospitalized with the complains of seizures, psychomotor retardation, vomiting and unconsciousness, 8 (30.8%) with recurrent vomiting, headache and coma, 6 due to liver dysfunction. Intrahepatic cholestatic jaundice was found in 3 patients with citrullinemia type Ⅱ. Blood ammonia ranged from 58 to 259 μmol/L on their first visit to our hospital. Twenty cases (76.9%) had liver dysfunction, 4 patients (15.4%) were diagnosed postmortem. Twenty-one patients got treatment and were followed up. Among them, 7 cases died of hyperammonemic encephalopathy or upper alimentary tract bleeding. Clinical improvement was observed in 14 cases. A boy with OTC deficiency who received a partial liver transplant from his mother showed normal general condition for two years. Conclusions UCDs are the most frequent causes of congenital hyperammonemia. In this study, 26 patients (10.2%) with UCDs were identified from 254 patients with hyperammonemia resulting in encephalopathy and liver dysfunction. Early diagnosis and treatment can contribute a lot to improve the prognosis of the patients. Blood ammonia assay and further etiological analysis should be considered in the differential diagnosis of neurological and hepatic abnormality.
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2005年第5期331-334,共4页
Chinese Journal of Pediatrics
基金
卫生部医疗机构临床学科重点项目(20010912)
