Other Name: Polycystic Kidney Disease
Affected Gene: PKD1
Transmission: Autosomal dominant
Mutation: Felis_catus_9.0 E3 g.42858112C>A c.9882C>A
OMIA Link: 000807-9685


Breeds Recommended for Testing: Exotic Shorthair, Maine Coon, Ragdoll, Scottish Fold, Siberian


Symptoms:
PKD is associated with kidney failure, which occurs before the age of seven. The prevalence of PKD is about 6% of cats worldwide. Affected cats with polycystic kidney disease (PKD) have enlarged kidneys, irregularly shaped with multiple cysts.


References:
Bilgen, N., Bişkin Türkmen, M., Çınar Kul, B., Isparta, S., Şen, Y., Akkurt, M.Y., Çıldır, Ö.Ş., Bars, Z.
Prevalence of PKD1 gene mutation in cats in Turkey and pathogenesis of feline polycystic kidney disease.
J Vet Diagn Invest, 32:549-555, 2020. PubMed reference: 32687010
DOI: 10.1177/1040638720935433
Lyons, LA., Biller, DS., Erdman, CA., Lipinski, MJ., Young, AE., Roe, BA., Qin, B., Grahn, RA.
Feline polycystic kidney disease mutation identified in PKD1.
J Am Soc Nephrol, 15:2548-55, 2004. PubMed reference: 15466259
DOI: 10.1097/01.ASN.0000141776.38527.BB