Sex, genotype, and liver volume progression as risk of hospitalization determinants in autosomal dominant polycystic liver disease

Autosomal dominant polycystic liver disease (ADPLD) is a rare condition with a female preponderance, mainly based on pathogenic variants in two genes, PRKCSH and SEC63. Clinically, ADPLD is characterized by vast heterogeneity, ranging from asymptomatic to highly symptomatic hepatomegaly. To date, little is known about the prediction of disease progression at early stages, hindering clinical management, genetic counseling, and the design of randomized controlled trials. To improve disease prognostication, we built a consortium of European and American centers to recruit the largest cohort of patients with PRKCSH and SEC63 liver disease.

Source: Gastroenterology - December 12, 2023 Category: Gastroenterology Authors: Ria Sch önauer, Dana Sierks, Melissa Boerrigter, Tabinda Jawaid, Lea Caroff, Marie-Pierre Audrezet, Anja Friedrich, Melissa Shaw, Jan Degenhardt, Mirjam Forberger, Jonathan de Fallois, Henrik Bläker, Carsten Bergmann, Juliana Gödiker, Philipp Schindler Tags: Clinical - Liver Source Type: research