Freese D K, Tuchman M, Schwarzenberg S J, Sharp H L, Rank J M, Bloomer J R, Ascher N L, Payne W D
Department of Pediatrics, University of Minnesota, Minneapolis 55455.
J Pediatr Gastroenterol Nutr. 1991 Jul;13(1):10-5. doi: 10.1097/00005176-199107000-00002.
Liver transplantation is now accepted as the treatment of choice for tyrosinemia type I (hereditary tyrosinemia). In an effort to determine whether any factors in these patients would aid in predicting optimal timing of the transplant procedure, we evaluated several clinical, biochemical, and radiographic parameters in five successive patients undergoing liver transplant for tyrosinemia type I at the University of Minnesota. All five patients evidenced prolonged periods of clinical and metabolic stability with dietary therapy and four of five remained stable at the time of evaluation for transplantation. Nevertheless, all five suffered significant and unexpected complications of tyrosinemia prior to the time of liver transplant. Four developed renal stones, two were in liver failure, and one developed a neurologic crisis that left him completely paralyzed. Hepatocellular carcinoma was found in one of the five at transplant. We could identify no clinical, biochemical, or radiographic study that was predictive of the likelihood of significant complications of the disorder. Survival from the transplant procedure itself was 100%. The inability to predict or prevent significant complications of tyrosinemia and the favorable outcome from transplantation lead us to recommend liver transplant for all patients with tyrosinemia type I by 12 months of age.
肝移植现已被公认为I型酪氨酸血症（遗传性酪氨酸血症）的首选治疗方法。为了确定这些患者中的任何因素是否有助于预测移植手术的最佳时机，我们评估了明尼苏达大学连续五名接受I型酪氨酸血症肝移植患者的多项临床、生化和影像学参数。所有五名患者通过饮食疗法都有较长时间的临床和代谢稳定性，并且在评估移植时五分之四的患者保持稳定。然而，所有五名患者在肝移植前都出现了严重且意想不到的酪氨酸血症并发症。四名患者出现肾结石，两名患者出现肝功能衰竭，一名患者发生神经危机，导致完全瘫痪。五名患者中有一名在移植时被发现患有肝细胞癌。我们无法确定任何能够预测该疾病严重并发症可能性的临床、生化或影像学研究。移植手术本身的存活率为100%。由于无法预测或预防酪氨酸血症的严重并发症以及移植的良好结果，我们建议所有I型酪氨酸血症患者在12个月大时进行肝移植。
