None of the unsolved patients had have family history of kidney disease, therefore mutations in autosomal recessive genes that lead to ARPKD-like phenotypes such as the DZIP1L [8] or even in dominant cystic kidney disease genes such as HNF1B, PKD1 and PKD2 that often occur de novo are possible [25]. Here, PKD2 is linked to autosomal recessive polycystic kidney disease.