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Article

Biallelic PKD1 mutations causing neonatal death in an extremely preterm infant: a Korean case report of very early-onset ADPKD.

BMC nephrology - 13 Jun 2026

Lee Dong Hyun, Park Joonhong, Kim Hyun Ho, Kim Jin Kyu

Abstract excerpt

BACKGROUND: Very early-onset autosomal dominant polycystic kidney disease (VEO-ADPKD) caused by biallelic PKD1 mutations is extremely rare and often phenocopies autosomal recessive PKD (ARPKD), complicating prenatal diagnosis and genetic counseling. CASE PRESENTATION: We report an extremely preterm Korean male infant (27 + 3 weeks, 1300 g) with fetal polycystic kidney disease and severe oligohydramnios from...

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Source

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Identifiers

PMID: 42286521
DOI: 10.1186/s12882-026-04982-2
PMCID: PMC13317035

Genes

PKD1
PKD2
PKHD1

Variants

Provenance

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

Related research

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Biallelic PKD1 mutations causing neonatal death in an extremely preterm infant: a Korean case report of very early-onset ADPKD.PMID 42286521Read ↗

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