PDF(Pubmed)
Abstract：
BACKGROUND: Ornithine transcarbamylase deficiency (OTCD) is an X-linked inherited disorder and characterized by marked elevation of blood ammonia. The goal of treatment is to minimize the neurological damage caused by hyperammonemia. OTCD can be cured by liver transplantation (LT). Post-transplant patients can discontinue anti- hyperammonemia agents and consume a regular diet without the risk of developing hyperammonemia. The neurological damage caused by hyperammonemia is almost irreversible.
METHODS: An 11.7-year-old boy presented with headache, vomiting, and altered consciousness. The patient was diagnosed with late-onset OTCD. After nitrogen scavenging treatment and a protein-free diet, ammonia levels were reduced to normal on the third day of admission. Nevertheless, the patient remained in a moderate coma. After discussion, LT was performed. Following LT, the patient\'s blood ammonia and biochemical indicators stabilized in the normal range, he regained consciousness, and his nervous system function significantly recovered. Two months after LT, blood amino acids and urine organic acids were normal, and brain magnetic resonance imaging showed a decrease in subcortical lesions.
CONCLUSIONS: LT can significantly improve partial neurological impairment caused by late-onset OTCD hyperammonemic encephalopathy, and LT can be actively considered when early drug therapy is ineffective.
METHODS: An 11.7-year-old boy presented with headache, vomiting, and altered consciousness. The patient was diagnosed with late-onset OTCD. After nitrogen scavenging treatment and a protein-free diet, ammonia levels were reduced to normal on the third day of admission. Nevertheless, the patient remained in a moderate coma. After discussion, LT was performed. Following LT, the patient\'s blood ammonia and biochemical indicators stabilized in the normal range, he regained consciousness, and his nervous system function significantly recovered. Two months after LT, blood amino acids and urine organic acids were normal, and brain magnetic resonance imaging showed a decrease in subcortical lesions.
CONCLUSIONS: LT can significantly improve partial neurological impairment caused by late-onset OTCD hyperammonemic encephalopathy, and LT can be actively considered when early drug therapy is ineffective.
摘要：
背景：鸟氨酸转碳淀粉酶缺乏症（OTCD）是一种X连锁遗传性疾病，其特征是血氨明显升高。治疗的目标是尽量减少由高氨血症引起的神经损伤。OTCD可以通过肝移植（LT）治愈。移植后患者可以停止抗高氨血症剂并消耗常规饮食而没有发生高氨血症的风险。高氨血症引起的神经损伤几乎是不可逆转的。
方法：一名11.7岁男孩出现头痛，呕吐,和改变意识。患者被诊断为迟发性OTCD。经过氮清除处理和无蛋白质饮食，入院第三天，氨水平降至正常。然而，患者仍处于中度昏迷状态。经过讨论,LT进行。在LT之后,患者的血氨和生化指标稳定在正常范围内，他恢复了意识,他的神经系统功能明显恢复。LT术后两个月,血氨基酸和尿有机酸正常,脑磁共振成像显示皮质下病变减少。
结论：LT能明显改善迟发性OTCD高血氨脑病引起的部分神经功能缺损，当早期药物治疗无效时，可以积极考虑LT。
方法：一名11.7岁男孩出现头痛，呕吐,和改变意识。患者被诊断为迟发性OTCD。经过氮清除处理和无蛋白质饮食，入院第三天，氨水平降至正常。然而，患者仍处于中度昏迷状态。经过讨论,LT进行。在LT之后,患者的血氨和生化指标稳定在正常范围内，他恢复了意识,他的神经系统功能明显恢复。LT术后两个月,血氨基酸和尿有机酸正常,脑磁共振成像显示皮质下病变减少。
结论：LT能明显改善迟发性OTCD高血氨脑病引起的部分神经功能缺损，当早期药物治疗无效时，可以积极考虑LT。
