BACKGROUND: Tyrosinemia type I is associated with an increased risk of liver cancer development. The formation of the pathogenic fumarylacetoacetate is prevented by 2-(2-nitro-4-3 trifluoro-methylbenzoyl)-1,3-cyclohexanedione (NTBC). Still, some patients with NTBC treatment develop liver cancer. A rise of alpha-fetoprotein (AFP) is an indicator of liver cancer. AIM: To study the predictive value of AFP in tyrosinemia type I patients for the discrimination between patients at high and low risk of liver cancer development. METHODS: We examined the course of AFP values of 11 Dutch patients with tyrosinemia type I treated by NTBC, of whom four were diagnosed with liver cancer. RESULTS: The four patients with liver cancer had a course of AFP different from the other patients in either velocity of the decrease of AFP, achieving normal AFP and/or having a rise of AFP concentrations. CONCLUSION: Apart from a rise of AFP, a slow AFP decrease, and never normalizing levels of AFP are important predictors of liver cancer development in further life.
BACKGROUND:Tyrosinemia type I is associated with an increased risk of liver cancer development. The formation of the pathogenic fumarylacetoacetate is prevented by 2-(2-nitro-4-3 trifluoro-methylbenzoyl)-1,3-cyclohexanedione (NTBC). Still, some patients with NTBC treatment develop liver cancer. A rise of alpha-fetoprotein (AFP) is an indicator of liver cancer. AIM: To study the predictive value of AFP in tyrosinemia type Ipatients for the discrimination between patients at high and low risk of liver cancer development. METHODS: We examined the course of AFP values of 11 Dutch patients with tyrosinemia type I treated by NTBC, of whom four were diagnosed with liver cancer. RESULTS: The four patients with liver cancer had a course of AFP different from the other patients in either velocity of the decrease of AFP, achieving normal AFP and/or having a rise of AFP concentrations. CONCLUSION: Apart from a rise of AFP, a slow AFP decrease, and never normalizing levels of AFP are important predictors of liver cancer development in further life.
Authors: Manuel Schiff; Pierre Broue; Brigitte Chabrol; Corinne De Laet; Dalila Habes; Karine Mention; Jacques Sarles; Anne Spraul; Vassili Valayannopoulos; Hélène Ogier de Baulny Journal: J Inherit Metab Dis Date: 2011-12-14 Impact factor: 4.982
Authors: J-U Schlump; C Perot; K Ketteler; M Schiff; E Mayatepek; U Wendel; U Spiekerkoetter Journal: J Inherit Metab Dis Date: 2008-05-20 Impact factor: 4.982
Authors: Nienke S Kienstra; Hannah E van Reemst; Willem G van Ginkel; Anne Daly; Esther van Dam; Anita MacDonald; Johannes G M Burgerhof; Pim de Blaauw; Patrick J McKiernan; M Rebecca Heiner-Fokkema; Francjan J van Spronsen Journal: J Inherit Metab Dis Date: 2017-11-23 Impact factor: 4.982
Authors: Corinne de Laet; Carlo Dionisi-Vici; James V Leonard; Patrick McKiernan; Grant Mitchell; Lidia Monti; Hélène Ogier de Baulny; Guillem Pintos-Morell; Ute Spiekerkötter Journal: Orphanet J Rare Dis Date: 2013-01-11 Impact factor: 4.123
Authors: Sebene Mayorandan; Uta Meyer; Gülden Gokcay; Nuria Garcia Segarra; Hélène Ogier de Baulny; Francjan van Spronsen; Jiri Zeman; Corinne de Laet; Ute Spiekerkoetter; Eva Thimm; Arianna Maiorana; Carlo Dionisi-Vici; Dorothea Moeslinger; Michaela Brunner-Krainz; Amelie Sophia Lotz-Havla; José Angel Cocho de Juan; Maria Luz Couce Pico; René Santer; Sabine Scholl-Bürgi; Hanna Mandel; Yngve Thomas Bliksrud; Peter Freisinger; Luis Jose Aldamiz-Echevarria; Michel Hochuli; Matthias Gautschi; Jessica Endig; Jens Jordan; Patrick McKiernan; Stefanie Ernst; Susanne Morlot; Arndt Vogel; Johannes Sander; Anibh Martin Das Journal: Orphanet J Rare Dis Date: 2014-08-01 Impact factor: 4.123