ABSTRACT

Infections, metabolic diseases, intrahepatic or extrahepatic bile duct diseases and some systemic illnesses are among the causes of cholestasis in childhood. We aimed to present the workup process and clinical findings of our patients diagnosed with an intrahepatic bile duct disease.

In cases admitted to our clinic for jaundice, hepatic enzymes, viral serological tests, alpha-1 antitrypsin, thyroid function tests, metabolic screening tests and abdominal ultrasound imaging were performed. In cases with negative test results, the diagnosis was made with genetic studies and liver biopsy.

As a result of genetic studies and liver biopsies, one of the patients was diagnosed with Alagille syndrome, another one had Caroli disease, six had type 1, 2 or 3 of familial progressive intrahepatic cholestasis and the last one was diagnosed with cystic fibrosis.

As inherited intrahepatic bile duct diseases loom large in differential diagnosis of cases with cholestasis our society where consanguineous marriages are common, genetic analysis plays an important role in diagnosis of those diseases.

Keywords: Cholestasis, intrahepatic, jaundice