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

ABSTRACT:

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 obvious extra-renal manifestations who was referred for genetic investigation.

Methods

We used a combination of next generation sequencing, Sanger sequencing and RNA and microscopy studies performed on urine-derived renal epithelial cells (URECs) to provide a genetic diagnosis of ARPKD.

Results

A next generation sequencing panel of cystic ciliopathy genes allow

SUBMITTER: Molinari E 

PROVIDER: S-EPMC7559414 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature