典型瓜氨酸血症婴儿合并肝硬变1例  

Cirrhosis in an infant heterozygous for classical citrullinaemia

作　　者：EzgüF.S. Tümer L. Dalgi B. 朱新菊 

机构地区：[1]Gazi University Hospital, Department of Paediatrics, Besevler, 06500, Ankara, Turkey

出　　处：《世界核心医学期刊文摘（儿科学分册）》2006年第6期12-12,共1页

摘　　要：Classical citrullinaemia is caused by the inherited deficiency of argininosuccinate synthetase. Although varying degrees of liver involvement have been observed in urea cycle defects, including classical citrullinaemia, the co-existence of liver failure in a patient heterozygous for the disease has not been reported before. A female infant was investigated to find out the aetiology of early infantile liver failure. She was later found to be a heterozygote for the G390R mutation found in severe citrullinaemia patients. Conclusion: Classical citrullinaemia is a phenotypically heterogeneous disease, and observations for signs of its presence should be made even in heterozygotes.Classical citrullinaemia is caused by the inherited deficiency of argininosuccinate synthetase. Although varying degrees of liver involvement have been observed in urea cycle defects, including classical citrullinaemia, the co-existence of liver failure in a patient heterozygous for the disease has not been reported before. A female infant was investigated to find out the aetiology of early infantile liver failure. She was later found to be a heterozygote for the G390R mutation found in severe citrullinaemia patients. Conclusion： Classical citruUinaemia is a phenotypically heterogeneous disease, and observations for signs of its presence should be made even in heterozygotes.

关 键 词：瓜氨酸血症 婴儿 肝硬变 尿素循环障碍 肝功能衰竭 肝脏受累 不同程度 肝功衰竭 遗传性 合成酶 

分 类 号：R446.1[医药卫生—诊断学] R575.2[医药卫生—临床医学]