AUTHOR=Marquez Jonathan , Hawkins Lauren M. , Beck Anita E. , Dipple Katrina M. , Glass Ian A. , Keefe Alexandra C. , Nguyen Elizabeth D. 

TITLE=Case Report: An atypical case of ARPKD highlights the utility and challenges of implementing genetic testing in cystic kidney disease

JOURNAL=Frontiers in Pediatrics

VOLUME=Volume 13 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2025.1677417

DOI=10.3389/fped.2025.1677417

ISSN=2296-2360

ABSTRACT=BackgroundBiallelic pathogenic variants in PKHD1 cause a highly heterogenous disease, predominantly involving the kidneys and liver. Although the correlation between genotype and phenotype remains unclear, many variants in this gene have been described.CaseIn this study, we describe a case of suspected autosomal recessive polycystic kidney disease (ARPKD) due to a novel variant in PKHD1. The patient in this instance presented with a novel PKHD1 variant (c.2713C>A; p.Gln905Lys) in trans with a previously described pathogenic variant (c.7994T>C; p.Leu2665Pro).ConclusionsThe PKHD1 variant c.2713C>A; p.Gln905Lys may contribute to an ARPKD phenotype with a delayed juvenile onset.