Progressive intrahepatic cholestasis (Byler's disease): case report.

Progressive intrahepatic cholestasis (Byler's disease): case report.

This paper reports the case of a child in which the clinical and laboratory data indicate a progressive intrahepatic cholestasis of the type described as Byler's disease. The histological and histochemical findings suggest an intrahepatic cholestasis. Electron microscopy reveals interruptions of the bile canalicular membrane, which have been described as characteristic of this disease. A stri...

Progressive Familial Intrahepatic Cholestasis - A Case Report

Introduction Progressive familial intrahepatic cholestasis (PFIC) represents a group of disorders which usually begin in the first months of life and progress to cirrhosis before the end of second decade. The disease occurs due to a defect in bile acid transport leading to cholestasis and resultant hepatocelluler injury1-3. Recent molecular and genetic studies have identified genes responsible ...

Progressive Familial Intrahepatic Cholestasis

Progressive familial intrahepatic cholestasis

Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal-recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. The exact prevalence remains unknown, but the estimated incidence varies between 1/50,000 and 1/100,000 births. Three types of PFIC have been identified and associated with mutations ...

Intrahepatic Cholestasis in Sickle Cell Disease: A Case Report

Intrahepatic cholestasis (SCIC) is an uncommon but potentially fatal complication of sickle cell disease (SCD), with a high death rate, observed mainly in patients with homozygous sickle cell anemia. Herein, we describe a case of severe SCIC treated successfully with aggressive manual exchange transfusion (ET). The patient was admitted with enlarged liver and signs of hepatic failure, such as h...