title: [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.
authors.affiliation: Klinisk Genetisk Afdeling, Aarhus Universitetshospital, Brendstrupgårdsvej 21C, 8200 Aarhus N. marirasm@rm.dk.
authors.forename: Maria
authors.initials: M
authors.lastname: Rasmussen
authors.forename: Bjarne
authors.initials: B
authors.lastname: Ørskov
authors.forename: Anne-Bine
authors.initials: AB
authors.lastname: Skytte
authors.forename: Lone
authors.initials: L
authors.lastname: Sunde
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis / Q000235:genetics; D050396:TRPP Cation Channels / Q000235:genetics
chemical_list: D050396:TRPP Cation Channels