Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: Evidence for improvement of cholestasis with 4‐phenylbutyrate
Emmanuel Gonzales, Brigitte Grosse, Brice Schuller, Anne Davit‐Spraul, Filomena Conti, Catherine Guettier, Doris Cassio, Emmanuel Jacquemin – 26 February 2015 – Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a result of mutations in ABCB11 encoding bile salt export pump (BSEP), the canalicular bile salt export pump of hepatocyte. In some PFIC2 patients with missense mutations, BSEP is not detected at the canaliculus owing to mistrafficking of BSEP mutants. In vitro, chaperone drugs, such as 4‐phenylbutyrate (4‐PB), have been shown to partially correct mistrafficking.