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

Dana Sierks,Ria Schönauer,Anja Friedrich,Elena Hantmann,Jonathan de Fallois, Nikolas Linder,Janett Fischer,Adam Herber,Carsten Bergmann,Thomas Berg,Jan Halbritter

JHEP Reports（2022）

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Abstract
•ADPKD-related PLD and isolated ADPLD may lead to equally severe hepatomegaly.•Age at first PLD-related hospitalization may serve as a novel clinically applicable endpoint to assess PLD severity.•Genetic confirmation is predictive for risk of hospitalization in both isolated and non-isolated PLD.•Age-adjusted liver volumetry may improve disease prognostication at early stages.
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Key words
polycystic disease,polycystic kidney disease,ADPLD,ADPKD,PCLD,PLD,PRKCSH,SEC63,PKD1,PKD2,GANAB,hepatomegaly,total liver volume
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