Renal function in tyrosinaemia type I after liver transplantation: A long‐term follow‐up

Renal tubular function in children with tyrosinaemia type I treated with nitisinone

“…This differs from our local experience in the pre-nitisinone era, when 25% of children with TTI had nephrocalcinosis at the time of transplantation (own unpublished data) and compares favourably with a previously documented incidence of nephrocalcinosis of 33% in non-NTBC-treated children in Canada (Paradis et al 1990). As long-term renal function following liver transplantation for TTI is closely related to renal function at the time of transplantation, the absence of nephrocalcinosis is advantageous (Herzog et al 2006;Mohan et al 1999;Pierik et al 2005).…”

“…The effect of liver transplantation on renal dysfunction has been variably reported, with the majority suggesting improvement (Shoemaker et al 1992). Following liver transplantation, residual urinary succinylacetone excretion is a constant finding and it has been suggested that this may contribute to progressive tubular dysfunction (Herzog et al 2006;Kvittingen et al 1986;Pierik et al 2005). Nitisinone [2-(2-nitro-4-trifluoro-methylbenzyol)-1,3-cyclohexanedione (NTBC)] is an inhibitor of 4-hydroxyphenylpyruvatedioxygenase, preventing the accumulation of fumarylacetoacetate and its conversion to succinylacetone.…”

Sub-nephrotoxic cisplatin sensitizes rats to acute renal failure and increases urinary excretion of fumarylacetoacetase

“…Dysfunctional mutations in the FAH gene have been related to hereditary tyrosinemia type I, a disease coursing with liver and renal injury, characterized by tubular dysfunction (Pierik et al, 2005;Rootwelt et al, 1994). Interestingly, increased plasma level of FAA has also been linked to tubular nephrotoxicity induced by D-Serine (Williams and Lock, 2004).…”

Current management options for tyrosinemia

“…1 Although the new liver will not produce succinylacetone, the kidneys still may do; 46 therefore, transplant recipients may benefit from low-dose NTCB therapy to prevent continued renal tubular and glomerular dysfunction resulting from the succinylacetone generated in renal tissue. 90 …”