Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.

doi:10.1016/j.kint.2021.04.019

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Article

Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.

Kidney international - 1 Sept 2021

Burgmaier Kathrin, Brinker Leonie, Erger Florian, Beck Bodo B, Benz Marcus R, Bergmann Carsten, Boyer Olivia, Collard Laure, Dafinger Claudia, Fila Marc, Kowalewska Claudia, Lange-Sperandio Bärbel, Massella Laura, Mastrangelo Antonio, Mekahli Djalila, Miklaszewska Monika, Ortiz-Bruechle Nadina, Patzer Ludwig, Prikhodina Larisa, Ranchin Bruno, Ranguelov Nadejda, Schild Raphael, Seeman Tomas, Sever Lale, Sikora Przemyslaw, Szczepanska Maria, Teixeira Ana, Thumfart Julia, Uetz Barbara, Weber Lutz Thorsten, Wühl Elke, Zerres Klaus, Dötsch Jörg, Schaefer Franz, Liebau Max Christoph

Abstract excerpt

Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically characterized by fibrocystic changes of the kidneys and the liver. The main cause of ARPKD are variants in the PKHD1 gene encoding the large transmembrane protein fibrocystin. The mechanisms underlying the observed clinical heterogeneity in ARPKD remain incompletely understood, partly due to the fact...

Topics

Child
Child, Preschool
Genetic Association Studies
Humans
Kidney
Mutation
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polycystic Kidney, Autosomal Recessive

Receptors, Cell Surface

Source

Open in PubMed

Identifiers

PMID: 33940108
DOI: 10.1016/j.kint.2021.04.019

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