Crone J, Möslinger D, Bodamer O A, Schima W, Huber W D, Holme E, Stöckler Ipsiroglu S
Department of Paediatrics, University of Vienna, Austria.
Acta Paediatr. 2003 May;92(5):625-8.
In a male patient with hereditary tyrosinaemia type I (HTI), NTBC [2-(2-nitro-4-trifluoro-methylbenzoyl)-1,3-cyclohexandion] treatment and a diet low in phenylalanine and tyrosine were started at the age of 4 wk. At the recommended average dosage (1 mg kg(-1)), liver failure improved transiently. After 4 mo of treatment, with increased body weight, the dose had decreased to 0.7 mg kg(-1), and diffuse cirrhotic changes in liver parenchyma and multiple nodules were visualized by ultrasonography. Multiple nodules in the liver parenchyma were differentiated from hepatocellular carcinoma by magnetic resonance imaging (MRI) using mangafodipir trisodium as a paramagnetic liver-specific contrast agent. Augmentation of NTBC dosage resulted in a decrease in serum alpha-fetoprotein levels and in significant regression of liver nodules on MRI.
In HTI patients with a poor response to NTBC treatment and/or development of cirrhotic changes of liver parenchyma, augmentation of the recommended NTBC dosage may result in significant improvement of symptoms.
在一名患有I型遗传性酪氨酸血症（HTI）的男性患者中，4周龄时开始使用NTBC[2-(2-硝基-4-三氟甲基苯甲酰基)-1,3-环己二酮]治疗并采用低苯丙氨酸和酪氨酸饮食。按照推荐的平均剂量（1毫克/千克），肝功能衰竭得到短暂改善。治疗4个月后，随着体重增加，剂量降至0.7毫克/千克，超声检查显示肝实质出现弥漫性肝硬化改变和多个结节。使用锰福地匹三钠作为顺磁性肝脏特异性造影剂，通过磁共振成像（MRI）将肝实质中的多个结节与肝细胞癌区分开来。增加NTBC剂量导致血清甲胎蛋白水平下降，且MRI显示肝脏结节明显消退。
在对NTBC治疗反应不佳和/或出现肝实质肝硬化改变的HTI患者中，增加推荐的NTBC剂量可能会使症状得到显著改善。
