Fukuizumi H, Kudo J, Shimamura R, Fujimoto K, Ishibashi H, Niho Y, Taniyama T, Kumashiro T
First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka.
Fukuoka Igaku Zasshi. 1990 Jul;81(7):247-53.
We report a 17-year-old female case of ornithine transcarbamylase (OTC) deficiency who died of brain edema due to hyperammonemic attack. The patient had a brother with OTC deficiency who had died of hyperammonemia at 17 years of age. She firstly had a symptom of headache, nausea, vomiting and myalgia at 14 years old and twice thereafter. On admission she had a severe disorientation and vomiting. The plasma ammonia level was 89 micrograms/dl, then increased to 400 micrograms/dl in five hours. In addition to plasma exchange, hemodialysis and then peritoneal dialysis for next 5 days, parenteral sodium benzoate and arginine were administered. Although the plasma ammonia level improved gradually, her consciousness never returned and she died of severe brain edema with uncontrollable hypotension on day 8. Histology of a necropsy liver sample showed fatty metamorphosis of hepatocytes mainly with fine lipid droplets. Electron micrograph of hepatocytes showed crystalloid inclusions in mitochondria. Significance of the clinical course and the treatment during hyperammonemic crisis was discussed.
我们报告一例17岁女性鸟氨酸转氨甲酰酶（OTC）缺乏症患者，其死于高氨血症发作所致的脑水肿。该患者有一个患OTC缺乏症的兄弟，已于17岁时死于高氨血症。她14岁时首次出现头痛、恶心、呕吐和肌痛症状，此后又发作过两次。入院时她有严重的定向障碍和呕吐。血浆氨水平为89微克/分升，5小时后升至400微克/分升。除进行血浆置换、血液透析，随后连续5天进行腹膜透析外，还给予了静脉注射苯甲酸钠和精氨酸。尽管血浆氨水平逐渐改善，但她的意识始终未恢复，于第8天死于严重脑水肿伴无法控制的低血压。尸检肝脏样本的组织学检查显示肝细胞脂肪变性，主要为细小脂滴。肝细胞的电子显微镜图像显示线粒体中有晶体包涵体。文中讨论了高氨血症危象期间临床病程及治疗的意义。
