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Article

Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.

BMC nephrology - 4 Jul 2018

Elisakova Veronika, Merta Miroslav, Reiterova Jana, Baxova Alica, Kotlas Jaroslav, Hirschfeldova Katerina, Obeidova Lena, Tesar Vladimir, Stekrova Jitka

Abstract excerpt

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder, leading to end stage renal failure and kidney transplantation in its most serious form. The severity of the disease's manifestation depends on the genetic determination of ADPKD. The huge variability of different phenotypes (even within a single family) is not only modulated by the two main ADPKD genes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29973168
DOI: 10.1186/s12882-018-0978-2
PMCID: PMC6032778

Genes

PKD2
PKD1

Variants

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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