Twee zusjes met progressieve familiaire intrahepatische cholestase

R.E. Wachters-Hagedoorn, R.J. Porte, A.S.H. Gouw, C.M.A. Bijleveld, H.J. Verkade en E. Sturm

Two sisters with progressive familial intrahepatic cholestasis.

– A few months after birth two sisters aged 5 and 9 years had developed cholestasis and abnormal liver functions with symptoms including itching and jaundice. The younger sister also developed rickets and clotting disorders. On clinical, biochemical and immunohistopathological grounds the diagnosis of ‘progressive familial intrahepatic cholestasis (PFIC) type 2’ was made. Medical treatment was not succesfull in reducing symptoms. An ileocolonic bypass in the younger child was not effective. Subsequently, both patients underwent partial external biliary diversion (PEBD). Except for a period of intermittent itching in the younger child, both patients remained free of symptoms 2 years after PEBD. In cases where an early diagnosis is made, PEBD could delay or even prevent the necessity of liver transplantation.