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Article

Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles.

BMC nephrology - 15 Oct 2020

Molinari Elisa, Srivastava Shalabh, Dewhurst Rebecca M, Sayer John A

Abstract excerpt

BACKGROUND: PKHD1 is the main genetic cause of autosomal recessive polycystic kidney disease (ARPKD), a hereditary hepato-renal fibrocystic disorder which is the most important cause of end-stage renal disease during early childhood. ARPKD can also present in adulthood with milder phenotypes. In this study, we describe a 24-year-old woman with atypical polycystic kidney, no family history of renal disease and no...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33059616
DOI: 10.1186/s12882-020-02094-z
PMCID: PMC7559414

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