Sirrs S, Yoshida E M, Wong Ltk, Erb S R, Chung S W, Steinbrecher U P, Scudamore C H, Hartnett C, Lillquist Y, Davidson Agf
Department of Medicine, Division of Endocrinology.
Paediatr Child Health. 2003 Oct;8(8):497-8. doi: 10.1093/pch/8.8.497.
A 15-year-old female with carbamyl phosphate synthetase deficiency, cystic fibrosis, and cystic fibrosis-related diabetes underwent orthotopic cadaveric liver transplantation. Metabolic control was maintained during the procedure with nutritional support and the use of intravenous sodium phenylacetate and benzoate. Her postoperative course was complicated by seizures and a transient decline in her pulmonary function tests, which returned to preoperative levels within one year of the transplant. Now, four years post-transplant, her quality of life has dramatically improved. There are only four Canadian centres with paediatric liver transplantation programs. However, expert medical care for adults with inborn error of metabolism is even more limited, suggesting that access to adult medical care is one of the many factors to be considered when liver transplantation is contemplated for patients with metabolically unstable conditions.
一名患有氨甲酰磷酸合成酶缺乏症、囊性纤维化以及与囊性纤维化相关糖尿病的15岁女性接受了原位尸体肝移植。手术过程中通过营养支持以及使用静脉注射苯乙酸钠和苯甲酸盐维持代谢控制。她的术后病程因癫痫发作和肺功能测试短暂下降而复杂化，肺功能在移植后一年内恢复到术前水平。现在，移植后四年，她的生活质量有了显著改善。加拿大仅有四个中心设有小儿肝移植项目。然而，为患有先天性代谢缺陷的成年人提供的专业医疗护理更为有限，这表明对于患有代谢不稳定病症的患者考虑进行肝移植时，获得成人医疗护理是众多需要考虑的因素之一。
