Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease.
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.
Harris
Peter C
PC
Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN 55905, USA. harris.peter@mayo.edu
Bae
Kyongtae T
KT
Rossetti
Sandro
S
Torres
Vicente E
VE
Grantham
Jared J
JJ
Chapman
Arlene B
AB
Guay-Woodford
Lisa M
LM
King
Bernard F
BF
Wetzel
Louis H
LH
Baumgarten
Deborah A
DA
Kenney
Philip J
PJ
Consugar
Mark
M
Klahr
Saulo
S
Bennett
William M
WM
Meyers
Catherine M
CM
Zhang
Qin Jean
QJ
Thompson
Paul A
PA
Zhu
Fang
F
Miller
J Philip
JP
D000293:Adolescent; D000328:Adult; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics* / Q000473:pathology*; D050396:TRPP Cation Channels
D050396:TRPP Cation Channels