Schmidt J, Schroth M, Irouschek A, Birkholz T, Kurzai M, Kröber S, Meisner M, Albrecht S
Klinik für Anästhesiologie, FAU, Erlangen-Nürnberg, Krankenhausstrasse 12, 91054 Erlangen.
Anaesthesist. 2005 Dec;54(12):1201-8. doi: 10.1007/s00101-005-0911-5.
Ornithine transcarbamylase deficiency (OTCD) is the most common inborn urea cycle disorder. Patients with OTCD are at risk of acute metabolic decompensation with hyperammonemia and subsequent encephalopathy, coma and death. Symptoms may be triggered by infections, drugs and stress, evoked by trauma, pain, fear, surgery and anaesthesia or by episodes of protein catabolism, i.e. fasting-induced, post partum or during gastrointestinal bleeding. Several specific considerations must be made for anaesthetic and intensive care management in patients with this disease in order to avoid metabolic decompensation. We report the intensive care management of the first manifestation of late-onset OTCD in a 16-year-old girl and a course of inconspicuous general anaesthesia with midazolam, s-ketamine, fentanyl and isoflurane in a 22-year-old girl with known OTCD.
鸟氨酸转氨甲酰酶缺乏症(OTCD)是最常见的先天性尿素循环障碍。OTCD患者有急性代谢失代偿的风险,伴有高氨血症及随后的脑病、昏迷和死亡。症状可能由感染、药物和应激引发,由创伤、疼痛、恐惧、手术和麻醉诱发,或由蛋白质分解代谢发作诱发,即禁食诱发、产后或胃肠道出血期间。对于患有这种疾病的患者,麻醉和重症监护管理必须进行一些特殊考虑,以避免代谢失代偿。我们报告了一名16岁女孩迟发性OTCD首次表现的重症监护管理情况,以及一名已知患有OTCD的22岁女孩使用咪达唑仑、s-氯胺酮、芬太尼和异氟烷进行的一次无明显并发症的全身麻醉过程。