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Article

Neonatal polycystic kidney disease: a novel variant.

BMJ case reports - 21 Jul 2021

Finnegan Catherine, Murphy Claire, Breathnach Fionnuala

Abstract excerpt

Polycystic kidney disease (PKD) is a condition typified by multiple renal cysts and renal enlargement. Classification is usually determined by mode of inheritance-autosomal dominant PKD (ADPKD) or autosomal recessive PKD (ARPKD). ARPKD frequently presents in fetal life, but here we report a rare case of a family with two siblings diagnosed with ADPKD manifesting in utero with novel genetic findings. During the...

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Source

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Identifiers

PMID: 34290017
DOI: 10.1136/bcr-2021-242991
PMCID: PMC8296790

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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