The outcome of seven patients with hereditary tyrosinemia type 1.

摘要: BACKGROUND Hereditary tyrosinemia type 1 (HT1) is a rare, inborn error of tyrosine metabolism. It fatal disorder without treatment. Early treatment may prevent acute liver failure, renal dysfunction, cirrhosis, hepatocellular carcinoma (HCC) and improves survival. The aim the present study to describe clinical, biochemical, imaging follow-up seven patients with HT1 define consequences late interrupted METHODS A retrospective was carried out patients. RESULTS median age at onset clinical symptoms 11.2 months (range, 3-28 months) diagnosis 22 6-58 months). Liver enzymes coagulation parameters were back normal in all symptomatic about 2 weeks. Alfa-fetoprotein (AFP) levels normalized within first year therapy. Hypoechoic nodule formation detected two despite drug an increase AFP any dysplastic changes biopsies. One patient died due metastatic HCC because poor compliance follow-up. CONCLUSIONS This showed once again that adherence schedule are very important. Also it should not be forgotten can occur nitisinone AFP. Despite treatment, still carry risk HCC. must before metastasis other organs otherwise, lose chance for transplantation.