儿童尿素循环障碍临床特点及诊治分析

发布时间：2018-11-04 10:42

【摘要】：目的:分析儿童尿素循环障碍(urea cycle disorders,UCDs)的临床资料,以提高对该病的诊治水平。方法:回顾分析6例尿素循环障碍患儿临床资料,并结合文献资料,对3种不同类型UCDs的临床特点及诊疗经过进行分析。结果:6例患儿中男女各3例,均为新生儿期后起病,发病年龄从1+月~8岁,入院时均被误诊为其他疾病。5例患儿发病前有可疑进食高蛋白食物或上呼吸道感染史;5例出现不同程度的意识障碍,4例有惊厥发作,4例有呕吐,2例伴有呼吸节律改变;6例患儿中,3例有异常家族史。患儿入院时血氨浓度波动于10-413umol/L,住院期间血氨峰浓度波动于10-1714umol/L,4例伴有肝功能损害;血串联质谱及尿气相色谱检查6例均异常。基因检查结果示鸟氨酸氨基甲酰转移酶缺乏症(OTCD)4例,氨甲酰磷酸合成酶I缺乏症(CPSID)及citrin蛋白缺乏症(CD)各1例。随访患儿生存质量,1例患儿死亡,2例出现智力运动倒退。结论:尿素循环障碍患儿临床表现无特异性,易与其他疾病混淆。血氨浓度测定是筛查该病的首要检查,血串联质谱检查及尿有机酸气相色谱检查有助于疾病的诊断及分型,但确诊仍需基因检查。
[Abstract]:Objective: to analyze the clinical data of urea circulatory disorder (urea cycle disorders,UCDs) in children in order to improve the diagnosis and treatment of the disease. Methods: the clinical data of 6 children with urea circulatory disorder were analyzed retrospectively, and the clinical characteristics and diagnosis and treatment of three different types of UCDs were analyzed. Results: of the 6 cases, 3 cases were male and female, all of them were born after neonatal stage, the onset age ranged from 1 month to 8 years old, and were misdiagnosed as other diseases on admission. 5 cases had suspicious history of consuming high protein food or upper respiratory tract infection before onset. 5 cases had different degree of consciousness disorder, 4 cases had convulsion, 4 cases had vomiting, 2 cases had respiratory rhythm change, 3 cases had abnormal family history. The serum ammonia concentration fluctuated from 10-413umol/ L to 10-1714umoll / L during hospitalization in 4 cases with liver dysfunction, and 6 cases were abnormal by tandem mass spectrometry and urine gas chromatography. Gene examination showed that there were 4 cases of ornithine carbamyltransferase deficiency (OTCD), 1 case of carbamyl phosphate synthase I deficiency (CPSID) and 1 case of citrin protein deficiency (CD). Quality of life (QOL) was followed up in 1 case, 2 cases showed mental motor regression. Conclusion: the clinical manifestation of urea circulatory disorder in children is not specific and is easily confused with other diseases. The determination of blood ammonia concentration is the primary examination for screening the disease. Blood tandem mass spectrometry and urine organic acid gas chromatography are helpful for the diagnosis and typing of the disease, but the diagnosis still needs genetic examination.
【学位授予单位】：重庆医科大学
【学位级别】：硕士
【学位授予年份】：2016
【分类号】：R725.8

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