Step by step diagnosis of hereditary tyrosinemia type I in children

Tyrosinemia type I (HT1) is a rare genetic disease that leads to the development of cirrhosis of the liver, liver failure, and tubulopathy. In this connection there is necessary the early diagnosis and timely initiation of the pathogenetic treatment. The aim of the work was the elaboration of algorithm for a diagnostics of hereditary HT1 in children. We observed 17 children (8 boys and 9 girls) with HT1. There were investigated data of both of the life and disease history ofpatients, there were evaluated changes in clinical and laboratory indices at the onset of the disease. There are established significant clinical and laboratory diagnostic criteria at the onset of HT1 in infants with consequent construction of diagnostic algorithm of this form of pathology. Stepwise diagnosis allows to early detect this disease yet at the first level of the delivery of medical aid in conditions ofprimary health care. Early beginning of specific therapy of HT1 provides for the prevention of disability and death of sick children. Step-by-step diagnostics of HT1 allows to implement the selection ofpatients who need performing of molecular genetic study.