Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis.

ABSTRACT:

Background & aims

Polycystic liver disease (PLD) manifests as numerous fluid-filled cysts scattered throughout the liver parenchyma. PLD most commonly develops in females, either as an extra-renal manifestation of autosomal-dominant polycystic kidney disease (ADPKD) or as isolated autosomal-dominant polycystic liver disease (ADPLD). Despite known genetic causes, clinical variability challenges patient counselling and timely risk prediction is hampered by a lack of genotype-phenotype correlations and prognostic imaging classifications.

Methods

We performed targeted next-generation sequencing and multiplex ligation-dependent probe amplification to identify the underlying genetic defect in a cohort of 80 deeply characterized patients with PLD. Identified genotypes were correlat

SUBMITTER: Sierks D 

PROVIDER: S-EPMC9563211 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature