TY - JOUR AU - Molinari, Elisa AU - Srivastava, Shalabh AU - Dewhurst, Rebecca M. AU - Sayer, John A. PY - 2020 DA - 2020/10/15 TI - Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles JO - BMC Nephrology SP - 435 VL - 21 IS - 1 AB - 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. SN - 1471-2369 UR - https://doi.org/10.1186/s12882-020-02094-z DO - 10.1186/s12882-020-02094-z ID - Molinari2020 ER -