CASE REPORT article
Front. Pediatr.
Sec. Pediatric Nephrology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1677417
An atypical case of ARPKD highlights the utility and challenges of implementing genetic testing in cystic kidney disease
Provisionally accepted
Jonathan Marquez
Lauren M Hawkins
Anita E BeckKatrina M DippleIan A Glass
Alexandra C Keefe*
Elizabeth D Nguyen*- University of Washington, Seattle, United States
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Background: Biallelic pathogenic variants in PKHD1 cause a highly heterogenous disease typically involving the kidneys and liver. Many variants in this gene have been described, though a correlation between genotype and phenotype has been unclear. Case: Here we describe a case of suspected autosomal recessive polycystic kidney disease (ARPKD) due to a novel variant in PKHD1. The individual in this case was found to have a novel PKHD1 variant (c.2713C>A; p.Gln905Lys) in trans with a previously described pathogenic variant (c.7994T>C; p.Leu2665Pro). Conclusions: The PKHD1 variant c.2713C>A; p.Gln905Lys may contribute to an ARPKD phenotype with a later juvenile onset.
Keywords: Autosomal Recessive Polycystic Kidney Disease, exome sequencing, Genetics, inherited kidney disease, Cystic liver disease
Received: 31 Jul 2025; Accepted: 13 Oct 2025.
Copyright: © 2025 Marquez, Hawkins, Beck, Dipple, Glass, Keefe and Nguyen. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Alexandra C Keefe, alexandra.keefe@seattlechildrens.org
Elizabeth D Nguyen, elizabeth.nguyen@seattlechildrens.org
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