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Article

Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations.

Pediatric nephrology (Berlin, Germany) - 1 Jul 2017

Ebner Kathrin, Dafinger Claudia, Ortiz-Bruechle Nadina, Koerber Friederike, Schermer Bernhard, Benzing Thomas, Dötsch Jörg, Zerres Klaus, Weber Lutz Thorsten, Beck Bodo B, Liebau Max Christoph

Abstract excerpt

BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) constitutes an important cause of pediatric end stage renal disease and is characterized by a broad phenotypic variability. The disease is caused by mutations in a single gene, Polycystic Kidney and Hepatic Disease 1 (PKHD1), which encodes a large transmembrane protein of poorly understood function called fibrocystin. Based on current knowledge of...

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Identifiers

PMID: 28364132
DOI: 10.1007/s00467-017-3648-x

Genes

PKHD1

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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