Costil J, Taïeb B, Buffe D, Garel L, Boccon-Gibod L, Gruner M, Brissaud H E
Arch Fr Pediatr. 1980 Mar;37(3):187-90.
A girl with chronic hereditary tyrosinemia is described in whom the diet caused an immediate resolution of tubular defect and rapid healing of the rickets. However cirrhosis was not prevented and at the age of 8 she developed a hepatoma. Complete surgical excision was possible and she remained well 15 months later. The value of blood alpha-fetoprotein levels and liver echotomography to monitor the course of the disease is emphasized. The apparent ineffectiveness of the low phenylalanine and tyrosine diet in preventing hepatic complications is discussed.
本文描述了一名患有慢性遗传性酪氨酸血症的女孩，其饮食使肾小管缺陷立即得到缓解，佝偻病迅速治愈。然而，肝硬化并未得到预防，她在8岁时患上了肝癌。肿瘤得以完整手术切除，15个月后她状况良好。强调了血液甲胎蛋白水平和肝脏超声检查在监测疾病进程中的价值。文中还讨论了低苯丙氨酸和酪氨酸饮食在预防肝脏并发症方面明显无效的情况。
