Wood Georgina Elizabeth, McNicholas James
Intensive Care Unit, Queen Alexandra Hospital, Portsmouth, Hampshire, UK.
BMJ Case Rep. 2015 May 6;2015:bcr2014205592. doi: 10.1136/bcr-2014-205592.
A 54-year-old woman with coeliac disease was admitted to hospital electively for supplemental nutrition. Shortly after feeding started she deteriorated into a hyperammonemic coma with refeeding syndrome, requiring an extensive intensive care admission. Urea cycle disorders were investigated and a biochemical diagnosis of ornithine transcarbamylase deficiency was made. This is a rare diagnosis in the adult population. This case report summarises protein metabolism, urea cycle disorders and the challenges of management.
一名患有乳糜泻的54岁女性因补充营养而择期入院。开始喂食后不久，她因再喂养综合征恶化为高氨血症昏迷，需要入住重症监护病房进行全面治疗。对尿素循环障碍进行了调查，并作出了鸟氨酸转氨甲酰酶缺乏症的生化诊断。这在成人中是一种罕见的诊断。本病例报告总结了蛋白质代谢、尿素循环障碍及管理方面的挑战。
