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Article

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

Kidney international - 1 Mar 2005

Bergmann Carsten, Senderek Jan, Windelen Ellen, Küpper Fabian, Middeldorf Iris, Schneider Frank, Dornia Christian, Rudnik-Schöneborn Sabine, Konrad Martin, Schmitt Claus P, Seeman Tomas, Neuhaus Thomas J, Vester Udo, Kirfel Jutta, Büttner Reinhard, Zerres Klaus

Abstract excerpt

BACKGROUND: ARPKD is associated with mutations in the PKHD1 gene on chromosome 6p12. Most cases manifest peri-/neonatally with a high mortality rate in the first month of life while the clinical spectrum of surviving patients is much more variable than generally perceived. METHODS: We examined the clinical course of 164 neonatal survivors (126 unrelated families) over a mean observation period of 6 years (range 0...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15698423
DOI: 10.1111/j.1523-1755.2005.00148.x

Genes

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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