Hereditary tyrosinemia type I: A new clinical classification with difference in prognosis on dietary treatment

摘要: Hereditary tyrosinemia type I (McKusick 27670) is a heterogeneous disease with poor prognosis, yet there are few reports of the long-term prognosis. It therefore difficult to decide on treatment for individual patients. We have conducted an international survey patients and examined probability survival dietary causes death in 108 I. The after onset symptoms varied age at onset; earlier developed poorer outlook. Liver failure recurrent bleeding (67%), hepatocellular carcinoma (17%) porphyria-like syndrome respiratory (10%) were most common death. 1- 2-yr whom before 2 mo, between 6 mo 38%/29%, 74%/74% 96%/96%, respectively. On basis these rates, new classification--which important respect choices treatment--is proposed: very early (onset mo).