PKHD1 and Nephropathy: NGS analysis was performed using the Nephropathy Solution (NES) kit (Sophia Genetics, Lausanne, Switzerland) covering the coding regions of 44 most clinically relevant genes related to a broad range of nephropathies (AGXT, AQP2, ATP6V0A4, ATP6V1B1, AVPR2, BSND, CASR, CEP290, CLCN5, CLCNKB, COL4A3, COL4A4, COL4A5, CRB2, CTNS, CUBN, CYP24A1, DSTYK, EMP2, EYA1, FN1, FOXC1, GRHPR, HNF1b, KANK2, KCNJ1, LAMB2, NPHS2, NR3C2, OCRL, PAX2, PHEX, PKD1, PKD2, PKHD1, SIX1, SLC12A1, SLC12A3, SLC34A1, SLC4A1, SLC4A4, TTC21B, UMOD, WT1).