Molekylaergenetisk screening for polycystisk nyresygdom kan vaere et vigtigt diagnostisk redskab
Sammanfattning
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.