CLINICAL AND LABORATORY PROFILE OF CHILDREN WITH PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS ATTENDING LIVER CLINIC IN ALEXANDRIA UNIVERSITY CHILDREN’S HOSPITAL

Abstract

Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of rare autosomal recessive liver disorders of childhood characterized by mutations in genes encoding proteins involved in the hepatocellular transport system. Although the prevalence is unknown, its estimated incidence ranges between 1 in 50,000 and 1 in 100,000 live births.Most patients diagnosed with PFIC present with cholestasis, which is marked by jaundice and pruritus. Other findings include inadequate weight gain, feeding difficulties, and hepatosplenomegaly.Liver biopsy can diagnose the disease but Genetic testing is the gold standard.Treatment for patients with PFIC involves both medical and surgical approaches. Medical management includes dietary modifications, vitamins, and medications, while surgical treatment involves biliary diversion and liver transplantation.AIM:The study aimed to describe the clinical, laboratory, histopathological and genetic profiles of children with PFIC Attending the Liver Clinic at Alexandria University Children’s Hospital.PATIENTS AND METHODS:The study included all children diagnosed as PFIC by liver biopsy or genetic testing attending the Liver Clinic at Alexandria University Children’s Hospital (22 patients) from June 2017 to July 2024.