PDF(Pubmed)
Abstract：
Carbamoyl-phosphate synthetase 1 (CPS1) deficiency is an autosomal recessive congenital urea cycle disorder (UCD) characterized by hyperammonemia. The recipients of liver transplantation (LT) for UCD are often children, and the potential donors are often the parents. Hereditary congenital diseases involving UCD entail the possibility of both parents being genetically heterozygous. Herein, we describe the case of a 12-year-old girl with CPS1 deficiency receiving a liver transplant (soon after birth) from her father, who had a heterozygous CPS1 mutation. She was referred to our hospital with respiratory distress after contracting two infections (respiratory syncytial virus and human metapneumovirus) within a short period, both of which presented with hyperammonemia. Medication for hyperammonemia quickly lowered the ammonia levels. The hyperammonemia was thought to be caused by the heterozygous mutation in the donor liver; moreover, it is likely that the low enzyme activity in the patient\'s liver was increased due to the infections. This is the first study to report hyperammonemia in a CPS1 deficiency patient due to an infection after LT. Thus, patients with CPS1 deficiency should be aware of the development of hyperammonemia after LT.
摘要：
氨基甲酰磷酸合成酶1（CPS1）缺乏症是一种以高氨血症为特征的常染色体隐性遗传先天性尿素循环障碍（UCD）。UCD肝移植（LT）的接受者通常是儿童，潜在的捐赠者往往是父母。涉及UCD的遗传性先天性疾病需要父母双方遗传杂合的可能性。在这里，我们描述了一个12岁的CPS1缺乏症女孩接受她父亲的肝脏移植（出生后不久）的情况，有杂合CPS1突变。她在短时间内感染两次感染(呼吸道合胞病毒和人偏肺病毒)后,因呼吸窘迫被转诊至本院,两者都表现为高氨血症。高氨血症的药物迅速降低了氨水平。高氨血症被认为是由供体肝脏中的杂合突变引起的；此外，患者肝脏中的酶活性低可能是由于感染而增加的。这是第一项报道由于LT后感染引起的CPS1缺乏症患者的高氨血症的研究。因此，CPS1缺乏的患者应注意LT术后高氨血症的发生.
