Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.

doi:10.1681/ASN.2014101051

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Article

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.

Journal of the American Society of Nephrology : JASN - 1 Mar 2016

Audrézet Marie-Pierre, Corbiere Christine, Lebbah Said, Morinière Vincent, Broux Françoise, Louillet Ferielle, Fischbach Michel, Zaloszyc Ariane, Cloarec Sylvie, Merieau Elodie, Baudouin Véronique, Deschênes Georges, Roussey Gwenaelle, Maestri Sandrine, Visconti Chiara, Boyer Olivia, Abel Carine, Lahoche Annie, Randrianaivo Hanitra, Bessenay Lucie, Mekahli Djalila, Ouertani Ines, Decramer Stéphane, Ryckenwaert Amélie, Cornec-Le Gall Emilie, Salomon Rémi, Ferec Claude, Heidet Laurence

Abstract excerpt

Prenatal forms of autosomal dominant polycystic kidney disease (ADPKD) are rare but can be recurrent in some families, suggesting a common genetic modifying background. Few patients have been reported carrying, in addition to the familial mutation, variation(s) in polycystic kidney disease 1 (PKD1) or HNF1 homeobox B (HNF1B), inherited from the unaffected parent, or biallelic polycystic kidney and hepatic disease...

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Identifiers

PMID: 26139440
DOI: 10.1681/ASN.2014101051
PMCID: PMC4769188

Genes

PKD1
PKD2
PKHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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