背景:APOLT已被提出作为某些类型的NCMLD的治疗方式。虽然这种手术的短期结果与原位LT相当,其长期结果的报道很少。我们介绍了一例接受APOLT并发展为复发性PS的I型瓜氨酸血症病例。
方法:一名诊断为I型瓜氨酸血症的2岁男性儿童接受了APOLT,其左外侧段来自分离的供体肝脏,他的术后时间并不明显。手术后1周停止降氨剂,孩子以正常饮食出院。APOLT四年后,孩子出现了感觉神经改变和癫痫发作。诊断为PS。在天然肝脏右前门静脉栓塞后,他的感觉改善,并且在正常饮食下保持临床稳定。APOLT发生六年后,这个孩子再次表现出急性脑病的特征。影像学提示PS。对原生门静脉进行门静脉栓塞,患儿的临床状况得到改善。在6个月的随访中,孩子保持正常饮食。
结论:虽然这项技术的早期障碍可能已经被克服,在没有任何现实的临床应用基因治疗的情况下,需要重新审视APOLT对NCMLD进行长期表型代谢校正的争论.
BACKGROUND: APOLT has been proposed as a treatment modality for certain types of NCMLD. While the short-term outcomes of this operation have been comparable with orthotopic LT, its long-term outcomes have sparsely been reported. We present one such case of Citrullinemia type I who underwent APOLT and developed recurrent PS.
METHODS: A 2-year-old male child with a diagnosis of Citrullinemia type I underwent APOLT with a left lateral segment from a split deceased donor liver, and his postoperative period was unremarkable. Ammonia-lowering agents were stopped 1 week following the operation and the child was discharged home on a normal diet. Four years following APOLT, the child presented with altered sensorium and seizures. A diagnosis of PS was made. Subsequent to an embolization of the native liver\'s right anterior portal vein his sensorium improved and he remained clinically stable on a normal diet. Six years following the APOLT, the child again presented with features of acute encephalopathy. Imaging was suggestive of PS. A portal vein embolization of the native portal vein was performed and the child\'s clinical condition improved. At 6 months\' follow-up, the child remains well on a normal diet.
CONCLUSIONS: While the early impediments in this technique may have been overcome, in the absence of any realistic clinical application gene therapy, the debate of long-term phenotypic metabolic correction for NCMLD by APOLT needs to be revisited.