Molecular genetic screening for polycystic kidney disease can be an important diagnostic tool

Abstract Autosomal dominant polycystic kidney disease (ADPKD) is associated with mutation in the PKD1- or PKD2-gene. We present two cases with an atypical presentation of ADPKD. Molecular genetic screening of PKD1 and PKD2 confirmed the diagnoses. Screening of PKD1 and PKD2 has become an important diagnostic tool.