Teufel Ulrike, Weitz Jürgen, Flechtenmacher Christa, Prietsch Viola, Schmidt Jan, Hoffmann Georg F, Kölker Stefan, Engelmann Guido
Department of General Pediatrics, University of Heidelberg, Heidelberg, Germany.
Pediatr Transplant. 2011 Sep;15(6):E110-5. doi: 10.1111/j.1399-3046.2009.01171.x. Epub 2009 Apr 26.
OTCD can present with ALF at any age. Under adequate therapy symptoms resolve quickly. We report a three-yr-old girl with the manifestation of an OTCD as ALF. Despite adequate pharmacotherapy and protein restriction, the patient deteriorated and developed hepatic encephalopathy. A high urgency liver transplantation was performed and the patient recovered completely. We conclude that in patients with ALF urea cycle defects in general and OTCD in particular should be considered as differential diagnosis. Patients should be managed in a center that has the capacity for an emergency liver transplantation.
鸟氨酸转氨甲酰酶缺乏症（OTCD）在任何年龄都可能表现为急性肝衰竭（ALF）。在适当治疗下，症状会迅速缓解。我们报告一名3岁女孩，其表现为OTCD所致的ALF。尽管进行了充分的药物治疗和蛋白质限制，患者病情仍恶化并发展为肝性脑病。紧急进行了肝移植，患者完全康复。我们得出结论，对于ALF患者，一般应考虑尿素循环缺陷，尤其是OTCD作为鉴别诊断。患者应在有能力进行紧急肝移植的中心接受治疗。
