title: Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease.
abstract: Data from serial renal magnetic resonance imaging of the Consortium of Radiologic Imaging Study of PKD (CRISP) autosomal dominant polycystic kidney disease (PKD) population showed that cystic expansion occurs at a consistent rate per individual, although it is heterogeneous in the population, and that larger kidneys are associated with more rapid disease progression. The significance of gene type to disease progression is analyzed in this study of the CRISP cohort. Gene type was determined in 183 families (219 cases); 156 (85.2%) had PKD1, and 27 (14.8%) had PKD2. PKD1 kidneys were significantly larger, but the rate of cystic growth (PKD1 5.68%/yr; PKD2 4.82%/yr) was not different (P = 0.24). Cyst number increased with age, and more cysts were detected in PKD1 kidneys (P < 0.0001). PKD1 is more severe because more cysts develop earlier, not because they grow faster, implicating the disease gene in cyst initiation but not expansion. These insights will inform the development of targeted therapies in autosomal dominant PKD.
authors.affiliation: Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN 55905, USA. harris.peter@mayo.edu
authors.forename: Peter C
authors.initials: PC
authors.lastname: Harris
authors.forename: Kyongtae T
authors.initials: KT
authors.lastname: Bae
authors.forename: Sandro
authors.initials: S
authors.lastname: Rossetti
authors.forename: Vicente E
authors.initials: VE
authors.lastname: Torres
authors.forename: Jared J
authors.initials: JJ
authors.lastname: Grantham
authors.forename: Arlene B
authors.initials: AB
authors.lastname: Chapman
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Guay-Woodford
authors.forename: Bernard F
authors.initials: BF
authors.lastname: King
authors.forename: Louis H
authors.initials: LH
authors.lastname: Wetzel
authors.forename: Deborah A
authors.initials: DA
authors.lastname: Baumgarten
authors.forename: Philip J
authors.initials: PJ
authors.lastname: Kenney
authors.forename: Mark
authors.initials: M
authors.lastname: Consugar
authors.forename: Saulo
authors.initials: S
authors.lastname: Klahr
authors.forename: William M
authors.initials: WM
authors.lastname: Bennett
authors.forename: Catherine M
authors.initials: CM
authors.lastname: Meyers
authors.forename: Qin Jean
authors.initials: QJ
authors.lastname: Zhang
authors.forename: Paul A
authors.initials: PA
authors.lastname: Thompson
authors.forename: Fang
authors.initials: F
authors.lastname: Zhu
authors.forename: J Philip
authors.initials: JP
authors.lastname: Miller
mesh_terms: D000293:Adolescent; D000328:Adult; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics* / Q000473:pathology*; D050396:TRPP Cation Channels
chemical_list: D050396:TRPP Cation Channels