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

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 v...

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Bibliografiske detaljer
Udgivet i:BMC Nephrol
Main Authors: Elisakova, Veronika, Merta, Miroslav, Reiterova, Jana, Baxova, Alica, Kotlas, Jaroslav, Hirschfeldova, Katerina, Obeidova, Lena, Tesar, Vladimir, Stekrova, Jitka
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2018
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6032778/
https://ncbi.nlm.nih.gov/pubmed/29973168
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-018-0978-2
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