What this Trial Is About

Researchers are exploring the connection between genetic mutations in progressive familial intrahepatic cholestasis (PFIC) genes and adult patients with cryptogenic cholestasis, a liver condition with unclear cause. The study aims to better understand how these mutations relate to various clinical presentations and to identify risk factors linked to disease progression. By doing so, the research hopes to support personalized treatment options for patients with cholestatic liver diseases, including hepatobiliary cancer. This is a retrospective observational study collecting medical data from multiple centers on patients diagnosed with cholestatic liver diseases, specifically PFIC, cryptogenic cholestatic liver diseases (CCLDs), and hepatobiliary cancers (HBCs). The data spans from May 2013 until the study's start date. Patient diagnoses are confirmed through imaging studies, carefully excluding other causes of liver disease to ensure accurate inclusion. Participants will provide informed consent to allow researchers to gather and analyze their clinical and genetic information. The main outcome measured is the classification of mutations in PFIC genes over a 12-month period. The study focuses on adult patients aged 18 years and older. The research involves reviewing existing medical records without new interventions, aiming to correlate genetic findings with patient health details and disease characteristics.

Genotype-phenotype Relationship Between Cryptogenic Cholestasis and Familial Intrahepatic Cholestasis