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Article

Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.

Genes - 11 Feb 2026

Lapunzina-Soler Paloma, Shabaka Amir, Peces Ramón, Alonso Ángel, Cuesta Emilio, Mena Rocío, Espinosa-Román Laura, Melgosa Marta, Fernández Gema, Muñoz-GᵃPorrero Yolanda, Tenorio-Castaño Jair, Lapunzina Pablo, Nevado Julián

Abstract excerpt

Background/Objectives: Autosomal recessive polycystic kidney disease (ARPKD) is a severe ciliopathy caused by biallelic pathogenic variants in PKHD1, characterized by variable renal and hepatobiliary involvement. The widespread use of next-generation sequencing (NGS) has revealed a large number of rare PKHD1 variants, creating major challenges in distinguishing molecularly confirmed ARPKD from a broader spectrum...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41751613
DOI: 10.3390/genes17020229
PMCID: PMC12940483

Genes

PKHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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