Hasegawa T, Tzakis A G, Todo S, Reyes J, Nour B, Finegold D N, Starzl T E
Pittsburgh Transplanation Institute, University of Pittsburgh Medical Center, PA, USA.
J Pediatr Surg. 1995 Jun;30(6):863-5. doi: 10.1016/0022-3468(95)90766-1.
Ornithine transcarbamylase (OTC) deficiency is an X chromosome-linked disorder causing hyperammonemic encephalopathy with a very poor prognosis. We describe here two patients with OTC deficiency, one a late on-set female patient (case 1) and the other a neonatal-onset male patient (case 2), who were successfully treated with orthotopic liver transplantation (OLTx). The OTC activity in the excised liver was 10% and 0% of control, respectively. Hyperammonemic encephalopathy was controlled with medical therapy in case 1 until the of 5 years, but the complicated course in case 2 in which hyperammonemia required peritoneal dialysis and hemodialysis in the neonatal period necessitated OLTx with a reduced-size liver at the age of 80 days. Both patients had restoration of serum ammonia level to normal in 2 and 3 days after liver replacement, and both patients have normal neurological and developmental status after 2 and 0.5 years of postoperative follow-up. These cases illustrate not only the metabolic cure of this disorder, but also the need to preserve neurological integrity by aggressive medical management of the hyperammonemia preoperatively and early surgical intervention when indicated, even if this is required very early in life.
鸟氨酸转氨甲酰酶（OTC）缺乏症是一种X染色体连锁疾病，可导致高氨血症性脑病，预后极差。我们在此描述两名OTC缺乏症患者，一名是迟发性女性患者（病例1），另一名是新生儿期发病的男性患者（病例2），他们均通过原位肝移植（OLTx）获得成功治疗。切除肝脏中的OTC活性分别为对照的10%和0%。病例1在5岁之前通过药物治疗控制高氨血症性脑病，但病例2病情复杂，新生儿期高氨血症需要进行腹膜透析和血液透析，因此在80天时需要接受减体积肝脏的OLTx。两名患者在肝脏置换术后2天和3天血清氨水平均恢复正常，术后随访2年和0.5年后，两名患者的神经和发育状态均正常。这些病例不仅说明了这种疾病的代谢治愈，还表明需要通过术前积极的高氨血症药物管理以及在有指征时尽早进行手术干预来保护神经完整性，即使这需要在生命早期进行。
