Clinical course of patients with hepatorenal tyrosinemia treated with nitisinone – a 10-year prospective cohort study

Abstract

ntroduction: Untreated type 1 tyrosinemia, when manifesting in infancy, causes severe liver enlargement, or, later in the first year, damages the hepatic and renal tubular function, leading to developmental impairment. Nitisinone (NTBC) treatment has been able to control liver dysfunction in patients and the extrahepatic manifestations of HT1. The present study aimed to eval- uate the effect of nitisinone on the clinical course of patients with tyrosinemia type 1. Methods: This prospective 10-year cohort study focused on patients with type 1 tyrosinemia referred to Shiraz Pediatric Gastroenterology Clinic between March 20, 2010, and March 20, 2018. The clinical course of patients treated with nitisinone was evaluated. Statistical analysis was performed using SPSS 20 software. Results: This study included 145 patients. The results showed clear correlation between the severity of clinical complications of tyrosinemia and the proper use of the drug. The outcome among the patients taking the medications (95%) was observed to be good in 52.6%, while 12.6% of patients were on the waiting list, 32.6% had undergone transplantation, and 2.1% passed away. On the other hand, out of 54 patients who did not take NTBC, only 12% showed good outcomes, 6% were on the waiting list, 56% had undergone transplantation, and 26% died. Conclusion: The results of this study support the role of nitisinone in decreasing the complications of type 1 tyrosinemia and improving clinical symptoms, as well as reducing mortality in these patients. Keywords tyrosinemia type 1, nitisinone (NTBC), liver transplantation, tyrosine