Genotype-phenotype relationship between adult cryptogenic cholestasis and mutations in genes responsible for progressive familial intrahepatic cholestasis
age ≥ 18 years
diagnosis of PFIC/CCLDs/HBCs
obtaining informed consent
Another documented cause of chronic liver disease capable of justifying the clinical phenotype
Data from all patients with PFIC/CCLDs/HBCs will be collected and retrospectively evaluated relating to the centers participating in the study from May 2013 until the start date of the study.
Cohort
Retrospective
Not listed
Mutation classification in PFIC genes in patients with CCLDs
Estimate the percentage of pathological mutations, probably pathological, variants to uncertain significance, probably benign, benign in PFIC genes in subjects with CCLDs
Clinical Outcomes in PFIC Gene Mutation Carriers
Percentage of patients with PFIC gene mutations affected by CCLDs, HBCs, BRIC, LPAC, ICP, DIC, advanced fibrosis, and/or neonatal jaundice
Histological Patterns of Familial Intrahepatic Cholestasis in PFIC Gene Mutation Carriers
Percentages of patients with PFIC genes who have a histological pattern compatible with familial intrahepatic cholestasis.
Click on the lead sponsor to view all of their trials.
