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

Authors :: Maria, Rasmussen
Bjarne, Ørskov
Anne-Bine, Skytte
Lone, Sunde
Source :: Ugeskrift for laeger. 176(5A)
Publication Year :: 2014
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.

Subjects :: Male
TRPP Cation Channels
Child, Preschool
Mutation
Humans
Female
Genetic Testing
Child
Polycystic Kidney, Autosomal Dominant
Magnetic Resonance Imaging

Tools