New mutation of ATP7B gene detected by Ion Torrent in a Wilson patient with acute on chronic liver failure, transplanted via Eurotransplant
D Németh, A Folhoffer, A Krolopp, J Kósa, K Árvai, P Horváth, P Lakatos, Z Gerlei, L Kóbori, D Görög, M Szathmári, F Szalay · Zeitschrift für Gastroenterologie · 2014 · Heft 05
Bibliografische Angaben
Zusammenfassung
Introduction: Acute on chronic liver failure is a rare but high mortality form of Wilson disease. We present a case of acute liver failure of WD proved by a new ATP7B gene mutation detected by Ion Torrent. Urgent liver transplantation was accomplished via Eurotransplant. Case report: 47 year old male patient was admitted to our clinic because of acute liver failure. He was examined many times during the last three years in other departments for elevated transaminases and ferritin level. Genetic testing for hemochromatosis (HFE C282Y and H63A mutations) was negative. Alcoholic liver disease, hepatitis virus infec…
