Özet:

Objective: Infections, metabolic diseases, intrahepatic or extrahepatic even duct diseases and some systemic diseases 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 even duct disease. Methods In cases admitted to our clinic for yellow, 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. Results: As a result of genetic studies and liver biopsies, one of the patients was diagnosed with Alagille syndrome, another had Caroli disease, six had type 1, 2 or 3 of family progressive intrahepatic cholestasis and the last one was diagnosed with cystic fibrosis. Conclusion: As inherited intrahepatic even 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.

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