Cholestase met een normaal γ-gt: wat nu?

Four infants are presented with a genetic cause of intrahepatic cholestasis: progressive familiar intrahepatic cholestasis. This disorder belongs to a group of autosomal recessive disorders with hepatocellular cholestasis during infancy and a low serum γ-gt. In case of cholestasis of a young child with low serum γ-gt and normal anatomical biliary system, pfic type 1 and 2 should be considered, especially when infectious and metabolic diseases are excluded. pfic type 3 shows elevated levels of γ-gt. All described patients suffered from pfic type 2. The first patient presented with cerebral insufficiency due to intraventricular hematomas, twin sisters presented with failure to thrive and the last patient with persistent cholestatic icterus. The treatment which mainly consists of surgical treatment will be discussed.