Brusilow S W, Danney M, Waber L J, Batshaw M, Burton B, Levitsky L, Roth K, McKeethren C, Ward J
N Engl J Med. 1984 Jun 21;310(25):1630-4. doi: 10.1056/NEJM198406213102503.
Although normal plasma ammonium levels can be maintained in children with inborn errors of ureagenesis, these children are vulnerable to episodic hyperammonemia often resulting in coma and death. To treat such episodes, we designed a therapeutic protocol that included prompt recognition of hyperammonemia, therapy with intravenous sodium benzoate, sodium phenylacetate, and arginine, and nitrogen-free intravenous alimentation. Dialysis was performed if the hyperammonemia was unresponsive to drug therapy. Twelve episodes of hyperammonemia in seven children deficient in carbamyl phosphate synthetase, ornithine transcarbamylase, or argininosuccinic acid synthetase were treated; one patient died and the others recovered. In two patients measurement of the distribution of urinary nitrogen revealed that hippurate nitrogen and phenylacetylglutamine nitrogen together accounted for 60 per cent of "effective" urinary waste nitrogen. Successful therapy of episodic hyperammonemia plays an important part in the long-term management of disorders of the urea cycle.
尽管患有尿素生成先天性缺陷的儿童能够维持正常的血浆铵水平，但这些儿童易患间歇性高氨血症，常导致昏迷和死亡。为治疗此类发作，我们设计了一种治疗方案，包括迅速识别高氨血症、用静脉注射苯甲酸钠、苯乙酸钠和精氨酸进行治疗，以及无氮静脉营养。如果高氨血症对药物治疗无反应，则进行透析。对7名缺乏氨甲酰磷酸合成酶、鸟氨酸转氨甲酰酶或精氨琥珀酸合成酶的儿童发生的12次高氨血症发作进行了治疗；1例患者死亡，其他患者康复。在2例患者中，对尿氮分布的测量显示，马尿酸盐氮和苯乙酰谷氨酰胺氮一起占“有效”尿废物氮的60%。间歇性高氨血症的成功治疗在尿素循环障碍的长期管理中起着重要作用。
