Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage‐refractory itch
Robert Holz, Andreas E. Kremer, Dieter Lütjohann, Hermann E. Wasmuth, Frank Lammert, Marcin Krawczyk – 10 January 2018 – Benign recurrent intrahepatic cholestasis (BRIC) is a peculiar familial disease caused by mutations of the genes encoding hepatocanalicular flippase for phosphatidylserine (ATP8B1; BRIC type 1) or the bile salt export pump (ABCB11; BRIC type 2). Here, we report on a patient with nasobiliary drainage‐refractory BRIC type 2 who improved under plasma separation and anion absorption therapy.