Live donor liver transplantation for type 1 tyrosinemia: An analysis of 15 patients
Live donor liver transplantation for type 1 tyrosinemia: An analysis of 15 patients
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DOI：
10.1111/petr.13498
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发表时间：
2019-09-01
影响因子：
1.3
通讯作者：
Kilic, Murat
中科院分区：
文献类型：
--
作者：
Karaca, Can A.;Yilmaz, Cahit;Kilic, Murat
1型酪氨酸血症是一种罕见的酪氨酸降解途径代谢紊乱。由于这种疾病的罕见性，文献提供的最佳证据仅限于基于专家意见的指导方针，最佳治疗仍然存在争议。肝移植是治疗肝脏代谢途径缺陷以及其他严重疾病表现（如LF和HCC）的明确方法。尼替西酮是一种相对较新的药物，目前被推荐用于该疾病的医学治疗。其作用机制已被很好地理解，并且在症状前开始时疗效已很好地确定。本研究旨在评价15例尼替西酮时代行肝移植的1型酪氨酸血症患者的预后，并探讨其对HCC的预防作用。我们回顾了1037例患者的LT数据库。回顾性分析15例1型酪氨酸血症患者的资料。除1例患者外，所有患者在肝移植前均接受过尼替西酮治疗。肝移植最常见的适应症是LF和可疑结节。7例患者有HCC。死亡率为20% （n = 3）。Nitisinone治疗为1型酪氨酸血症的治疗开辟了新的视野，但对于发展为LF和HCC的患者来说，LT仍然是唯一的选择。应鼓励使用血琥珀酰丙酮作为标记物的新生儿筛查项目，特别是在近亲婚姻高发的国家，如土耳其。
Type 1 tyrosinemia is a rare metabolic disorder of the tyrosine degradation pathway. Due to the rarity of the disease, the best evidence literature offers is limited to guidelines based on expert opinions and optimal treatment is still a debate. LT serves as a definitive treatment of the defective metabolic pathway in the liver along with other serious disease manifestations such as LF and HCC. Nitisinone is a relatively new agent that is currently recommended for the medical management of the disease. Its mechanism of action is well understood, and efficacy is well established when started presymptomatically. This study aims to evaluate outcomes of 15 patients with type 1 tyrosinemia who underwent LT in nitisinone era and discuss its effect on prevention of HCC. A LT database of 1037 patients was reviewed. Data from 15 patients with type 1 tyrosinemia were retrospectively analyzed. All the patients except one were treated with nitisinone prior to LT. Most common indications for LT were LF and suspicious nodules. Seven patients had HCC. Mortality rate was 20% (n = 3). Nitisinone treatment has opened new horizons in the management of type 1 tyrosinemia, but LT still remains the only option for the patients developing LF and in the event of HCC. Neonatal screening programs utilizing blood succinyl acetone as the marker should be encouraged especially in the countries, such as Turkey, with high prevalence of consanguineous marriages.