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Article

Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease.

Pediatric nephrology (Berlin, Germany) - 1 Jul 2012

Zingg-Schenk Andrea, Caduff Jürg, Azzarello-Burri Silvia, Bergmann Carsten, Drenth Joost P H, Neuhaus Thomas J

Abstract excerpt

BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) shows a great phenotypic variability between patients, ranging from perinatal demise to mildly affected adults. Autosomal dominant polycystic liver disease (PCLD) does not manifest in childhood. CASE-DIAGNOSIS/TREATMENT: A boy was reported with the co-occurrence of ARPKD and PCLD. He presented at the age of 16 days with pyelonephritis and...

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Source

Identifiers

PMID: 22415584
DOI: 10.1007/s00467-012-2137-5

Genes

PKHD1
PRKCSH

Variants

Provenance

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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