Polycystic Kidney Disease 1 (PKD1)

 

Gene: PKD1

Transmission: Autosomal dominant

For a genetic disease that is autosomal dominant, the animal only has to have one copy of the mutation to be at risk of developing polycyctic kidney disease.  Animals with two copies of the mutation generally have more severe symptoms and an earlier onset of the disease than animals with just one copy of the mutation.  Offspring are potentially at risk of developing the disease if at least one parent carries the mutation.

Mutations:

Persian mutation: Substitution, PKD1 gene; c.9882 C>A, p(C3294 STOP)

Scottish Fold mutation: Deletion, PKD1 gene; c.5250 del, p.(1641 fs)

American Shorthair mutation: c.6808 C>T, p.(R2162W)

Medical system: Renal

Breeds: American Shorthair, Exotic Shorthair, Maine Coon, Munchkin, Persian, Ragdoll, Scottish Fold, Siberian

Age of onset of symptoms: By 7 years of age

Polycystic Kidney Disease (PKD1 is a genetic condition that has a prevalence of 38% in Persans and 6% in the cat population worldwide.  The clinical signs associated with PKD1 are severe renal failure that appears around 7 years of age.  Kidneys of affected animals are enlarged and have an irregular form with multiples cysts containing fluid.

 

References:

OMIA links: [0807-9685], [2525-9685]

Shitamori F, Nonogaki A, Motegi T, et al. (2023) Large-scale epidemiological study on feline autosomal dominant polycystic kidney disease and identification of novel PKD1 gene variants. J Feline Med Surg 25:1098612X231185393.  [pubmed/37489504]

Anderson H, Davison S, Lytle KM, et al. (2022) Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats.  PLoS Genet. 16;18(6):e1009804.  [pubmed/35709088]

Moazezi Ghavihelm A, Jamshidi S, Ashrafi Tamai I, Zangisheh M. (2022) Molecular detection of polycystic kidney disease in Persian and Persian-related breeds in Iran. JFMS Open Rep 8:20551169211070991. [pubmed/35127116]

Guerra JM, Cardoso NC, Daniel AGT, et al. (2021) Prevalence of autosomal dominant polycystic kidney disease in Persian and Persian-related cats in Brazil. Braz J Biol 81:392-7, 2021. [pubmed/32491055]

Rodney R, Buckley RM, Fulton R, et al. (2021) A domestic cat whole exome sequencing resource for trait discovery. Sci Rep 11:7159. [pubmed/33785770]

Schirrer L, Marín-García PJ, Llobat L. (2021) Feline polycystic kidney disease: An update. Vet Sci 8(11):269. [pubmed/34822642]

Guerra JM, Freitas MF, Daniel AG, et al. (2019) Age-based ultrasonographic criteria for diagnosis of autosomal dominant polycystic kidney disease in Persian cats. J Feline Med Surg 21:156-164. [pubmed/29652208]

Lyons LA, Biller DS, Erdman CA, et al. (2004) Feline polycystic kidney disease mutation identified in PKD1. J Am Soc Nephrol 15(10):2548-2555. [pubmed/15466259]

Lee YJ, Chen HY, Hsu WL, et al. (2010) Diagnosis of feline polycystic kidney disease by a combination of ultrasonographic examination and PKD1 gene analysis. Vet Rec 167(16):614-618. [pubmed/21257442]

Scalon MC, da Silva TF, Aquino LC, et al. (2014) Touchdown polymerase chain reaction detection of polycystic kidney disease and laboratory findings in different cat populations. J VET Diagn Invest. 26(4):542-546. [pubmed/24916445]

Nivy R, Lyons LA, Aroch I, Segev G, (2015) Polycyctic kidney disease in four British shorthair cats with successful treatment of bacterial cyct infection. J Small Animal Pract. 56(9):585-589. [pubmed/25677715]