K76.8
Conditions
Interventions
Group 1: Patients with atypical PBC (defined as AMA-negative PBC without histological confirmation), or atypical PSC (defined as large- or small-duct PSC without concomitant inflammatory bowel disease
whole exome sequencing (WES) with digital panel analysis of 46 cholestasis-associated genes is performed in these patients to identify individuals with a hereditary cholestatic liver disease in this c
Sponsors
Leipzig University Medical Center, Department of Medicine II, Division of Hepatology
Eligibility
Sex/Gender
All
Age
18 Years to No maximum
Inclusion criteria
Inclusion criteria: - Written consent of the patient for participation in the study as well as for the associated genetic analyses - Patients with atypical or typical PBC or PSC - Patients with hepatitis C virus infection in sustained virological response after antiviral therapy, with normal liver values and no indication of structural liver damage
Exclusion criteria
Exclusion criteria: - Patient’s refusal for study inclusion - Age 1:320, LKM-1) and elevated IgG), IgG4-associated cholangitis (confirmed by detection of significantly elevated serum IgG4 levels = 4x ULN and/or corresponding histology), previously confirmed diagnosis of hereditary intrahepatic cholestasis
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Evaluate the frequency of heterozygous or homozygous class 3-5 variants, and the combination of heterozygous or homozygous class 3-5 variants in cholestasis associated genes in patients with atypical PBC or PSC compared to healthy and disease control patients | — |
Secondary
| Measure | Time frame |
|---|---|
| Evaluate the relationship between genotype and phenotype in patients with heterozygous or homozygous class 3-5 variants in cholestasis associated genes | — |
Countries
Germany
Contacts
Public ContactToni Herta
Leipzig University Medical Center, Department of Medicine II, Division of Hepatology
Outcome results
None listed