OMIA 000807-9685 : Polycystic kidney disease in Felis catus

In other species: crab-eating macaque , dog , horse , pig , Western roe deer , , sheep , rabbit , degu , markhor , springbok

Possibly relevant human trait(s) and/or gene(s) (MIM number): 173900 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2004

Cross-species summary: PKD

Species-specific description: Cats with polycystic kidney disease (PKD) have large, irregularly shaped kidneys containing multiple, variably-sized epithelial-lined cysts in the cortex and medulla. PKD is associated with renal failure, frequently occurring by seven years of age. The prevalence of PKD is approximately 6% of cats worldwide. Some affected cats may also have hepatobiliary cysts, as well as biliary hyperplasia and fibrosis. The mode of inheritance is autosomal dominant. A test is available to detect the causative mutation.

Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT

Inheritance: No homozygous cats have been identified so far, suggesting the homozygous genotype is incompatible with life (Lyons et al., 2004).

Mapping: Although published after the report by Lyons et al. (2004) describing the molecular basis of this disorder, the linkage analysis described by Young et al. (2005) was the precursor of the 2004 paper, pinpointing the locus for this disorder to within 10 cR of the PKD1 locus on FCA E3.

Molecular basis: Armed with the mapping knowledge reported by Young et al. (2005), which showed this feline disorder to be closely linked to the feline PKD1 gene (mutations in which were known to be causative in other species), Lyons et al. (2004) cloned and sequenced the feline PKD1 gene, and identified the causative mutation as "a C>A transversion . . . at c.10063 (human ref NM_000296) in exon 29, resulting in a stop mutation at position 3284, which suggests a loss of approximately 25% of the C-terminus of the protein".

Clinical features: Large irregular cystic kidneys may be identified by ultrasonography prior to onset of clinical signs associated with renal failure. Renal failure develops after a variable amount of time, but onset is usually by seven years of age (Biller et al., 1996, Eaton et al., 1997). Those developing renal failure become thin and azotemic, and develop hyperphosphatemia, isosthenuria, nonregenerative anemia, and metabolic acidosis.

Pathology: Kidneys contain multiple, variably sized epithelial-lined cysts in the cortex and medulla. Lymphoplasmacytic inflammation and interstitial fibrosis may also be evident, suggesting chronic tubulointerstitial nephritis. Some affected cats may have small hepatobiliary cysts, as well as biliary hyperplasia and fibrosis (Biller et al., 1996). Immunohistochemical staining demonstrates translocation of Na/K ATPase from the basolateral membranes of the epithelial cells lining the cysts to the cytoplasm or the luminal membranes (Eaton et al., 1997).

Prevalence: The prevalence of PKD in Persians in Australia is 42-45% (Barrs et al., 2001), 49.2% in the United Kingdom (Cannon et al., 2001), and 37-38% worldwide (Lyons et al., 2004). In the cat population as a whole, the prevalence is approximately 6% (Grahn et al., 2004, Lyons et al., 2004).

By genotyping 377 Japanese cats for the c.10063C>A variant, Sato et al. (2019) observed that "The breeds with the highest rate of the PKD1 mutation were Persian (46%), Scottish Fold (54%) and American Shorthair cats (47%). However, mixed breed cats also showed high rates of the PKD1 mutation. Of cats with the mutation, the incidence of high plasma creatinine (≥1.6 mg/dl) was greater in cats ≥3 years old, although a few cats ≥9 years of age had low plasma creatinine (<1.6 mg/dl). The coincidence of renal and hepatic cysts was 12.6%, with the high prevalence in Persian cats (31%)."

Noori et al. (2019): "the prevalence of PKD was estimated 36.8% in Persian and Persian related cats in Tehran, Iran, which is approximately similar to prevalence in other parts of the world. Furthermore, there was a significant correlation between PKD and age, as in affected cats the detection probability of renal cysts in sonography was increased in older animals. For each year increase in age, the detection probability of PKD in sonography was increased about 2.62 times."

From a study of the c.10063C>A variant in cats in Turkey, Bilgen et al. (2020) reported "Ten of the 12 cats with cystic kidneys were found heterozygous for the PKD1 mutation by PCR-RFLP, with DNA sequencing confirming a C→A transversion. . . . Interestingly, 6 of the 16 symptomatic cats (2 mixed-breed cats with bilateral kidney cysts, and 4 Siamese cats having renomegaly without cysts) were negative for C→A, and sequencing of the amplified region did not show any nucleotide base differentiation. None of the cats of the native breeds of Anatolia carried the mutation (35 Angora and 56 Van), nor did 9 Exotic Shorthair or 5 British Shorthair cats."

Control: Testing is recommended for relatives of affected cats. To prevent production of affected cats and reduce the frequency of this autosomal dominant mutation in the gene pool, cats that have the mutation should be removed from breeding programs.

Genetic testing: A test is available to detect the mutation (Grahn et al., 2004).

Breeds: Burmilla, Persian.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PKD1 polycystic kidney disease 1 (autosomal dominant) Felis catus E3 NC_018738.3 (42824332..42868152) PKD1 Homologene, Ensembl, NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Persian Polycystic kidney disease PKD1 nonsense (stop-gain) E3 c.10063C>A p.(?3284*) 2004 15466259


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2021 Rodney, A.R., Buckley, R.M., Fulton, R.S., Fronick, C., Richmond, T., Helps, C.R., Pantke, P., Trent, D.J., Vernau, K.M., Munday, J.S., Lewin, A.C., Middleton, R., Lyons, L.A., Warren, W.C. :
A domestic cat whole exome sequencing resource for trait discovery. Sci Rep 11:7159, 2021. Pubmed reference: 33785770. DOI: 10.1038/s41598-021-86200-7.
2020 Bilgen, N., Bişkin Türkmen, M., Çınar Kul, B., Isparta, S., Şen, Y., Akkurt, M.Y., Çıldır, Ö.Ş., Bars, Z. :
Prevalence of <i>PKD1</i> 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.
Guerra, J.M., Cardoso, N.C., Daniel, A.G.T., Onuchic, L.F., Cogliati, B. :
Prevalence of autosomal dominant polycystic kidney disease in Persian and Persian-related cats in Brazil. Braz J Biol :, 2020. Pubmed reference: 32491055. DOI: 10.1590/1519-6984.227131.
Koslowski, S., Latapy, C., Auvray, P., Blondel, M., Meijer, L. :
An Overview of In Vivo and In Vitro Models for Autosomal Dominant Polycystic Kidney Disease: A Journey from 3D-Cysts to Mini-Pigs. Int J Mol Sci 21:, 2020. Pubmed reference: 32630605. DOI: 10.3390/ijms21124537.
2019 Noori, Z., Moosavian, H.R., Esmaeilzadeh, H., Vali, Y., Fazli, M. :
Prevalence of polycystic kidney disease in Persian and Persian related-cats referred to Small Animal Hospital, University of Tehran, Iran. Iran J Vet Res 20:151-154, 2019. Pubmed reference: 31531040.
Sato, R., Uchida, N., Kawana, Y., Tozuka, M., Kobayashi, S., Hanyu, N., Konno, Y., Iguchi, A., Yamasaki, Y., Kuramochi, K., Yamasaki, M. :
Epidemiological evaluation of cats associated with feline polycystic kidney disease caused by the feline PKD1 genetic mutation in Japan. J Vet Med Sci :, 2019. Pubmed reference: 31155548. DOI: 10.1292/jvms.18-0309.
Yu, Y., Shumway, K.L., Matheson, J.S., Edwards, M.E., Kline, T.L., Lyons, L.A. :
Kidney and cystic volume imaging for disease presentation and progression in the cat autosomal dominant polycystic kidney disease large animal model. BMC Nephrol 20:259, 2019. Pubmed reference: 31299928. DOI: 10.1186/s12882-019-1448-1.
2016 Vucicevic, M., Slijepcevic, D., Davitkov, D., Avdalovic, V., Aleksic-Kovacevic, S., Stevanovic, J., Stanimirovic, Z. :
First report of Polycystic kidney disease occurrence in Persian cats in Serbia. Vet Ital 52:51-6, 2016. Pubmed reference: 27033530. DOI: 10.12834/VetIt.599.2885.2.
2014 Jasik, A., Kulesza, M. :
Polycystic kidney disease in a Neva Masquerade cat. J Small Anim Pract 55:387, 2014. Pubmed reference: 24905486. DOI: 10.1111/jsap.12240.
2009 Criado-Fornelio, A., Buling, A., Barba-Carretero, JC. :
Identification of feline polycystic kidney disease mutation using fret probes and melting curve analysis. Res Vet Sci 86:88-90, 2009. Pubmed reference: 18556032. DOI: 10.1016/j.rvsc.2008.04.005.
2007 Helps, C., Tasker, S., Harley, R. :
Correlation of the feline PKD1 genetic mutation with cases of PKD diagnosed by pathological examination. Exp Mol Pathol :, 2007. Pubmed reference: 17553488. DOI: 10.1016/j.yexmp.2007.04.002.
Helps, CR., Tasker, S., Barr, FJ., Wills, SJ., Gruffydd-Jones, TJ. :
Detection of the single nucleotide polymorphism causing feline autosomal-dominant polycystic kidney disease in Persians from the UK using a novel real-time PCR assay. Mol Cell Probes 21:31-4, 2007. Pubmed reference: 16950597. DOI: 10.1016/j.mcp.2006.07.003.
2006 Rah, H., Maggs, DJ., Lyons, LA. :
Lack of genetic association among coat colors, progressive retinal atrophy and polycystic kidney disease in Persian cats. J Feline Med Surg 8:357-60, 2006. Pubmed reference: 16777456. DOI: 10.1016/j.jfms.2006.04.002.
2005 Gubbels, EJ., Prins, P. :
[Polycystic Kidney Disease (PKD) in cats] Tijdschr Diergeneeskd 130:184-5, 2005. Pubmed reference: 15796494.
Young, AE., Biller, DS., Herrgesell, EJ., Roberts, HR., Lyons, LA. :
Feline polycystic kidney disease is linked to the PKD1 region. Mamm Genome 16:59-65, 2005. Pubmed reference: 15674734. DOI: 10.1007/s00335-004-2412-2.
2004 Grahn, RA., Biller, DS., Young, AE., Roe, BA., Qin, B., Lyons, LA. :
Genetic testing for feline polycystic kidney disease. Anim Genet 35:503-4, 2004. Pubmed reference: 15566489. DOI: 10.1111/j.1365-2052.2004.01213.x.
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.
2003 Pedersen, K.M., Pedersen, H.D., Haggstrom, J., Koch, J., Ersboll, A.K. :
Increased mean arterial pressure and aldosterone-to-renin ratio in Persian cats with polycystic kidney disease Journal of Veterinary Internal Medicine 17:21-7, 2003. Pubmed reference: 12564723.
2001 Anon. :
PKD in cats: initial results from screening scheme Veterinary Record 149:226, 2001.
Barrs, V.R., Gunew, M., Foster, S.F., Beatty, J.A., Malik, R. :
Prevalence of autosomal dominant polycystic kidney disease in Persian cats and related-breeds in Sydney and Brisbane Australian Veterinary Journal 79:257-259, 2001. Pubmed reference: 11349412.
Beck, C., Lavelle, R.B. :
Feline polycystic kidney disease in Persian and other cats: a prospective study using ultrasonography Australian Veterinary Journal 79:181-184, 2001. Pubmed reference: 11301745.
Cannon, M.J., MacKay, A.D., Barr, F.J., Rudorf, H., Bradley, K.J., Gruffydd-Jones, T.J. :
Prevalence of polycystic kidney disease in Persian cats in the United Kingdom Veterinary Record 149:409-411, 2001. Pubmed reference: 11678212.
Hege, R., Zimmer, C., Reusch, C. :
Polycystic kidney disease in a Persian cat Schweizer Archiv fur Tierheilkunde 143:203-207, 2001. Pubmed reference: 11344945.
2000 Cannon, M., Barr, F., Gruffydd-Jones, T., Gunn-Moore, D. :
Screening for polycystic kidney disease in cats Veterinary Record 147:639-640, 2000. Pubmed reference: 11128083.
Cooper, B.K., Piveral, P. :
Autosomal dominant polycystic kidney disease in Persian cats Feline Practice 28:20-21, 2000.
Vanloubbeeck, Y., Desmecht, D., Cassart, D., Coignoul, F. :
Case report of an autosomal dominant polycystic kidney disease in a Persian cat. [French] Annales de Medecine Veterinaire 144:99-102, 2000.
1999 Gerwing, M., Michele, U., Kramer, M., Schimke, E. :
PKD (polycystic kidney disease) - Polycystic syndrome [German] Praktische Tierarzt 80:374-+, 1999.
Miller, R.H., Lehmkuhl, L.B., Smeak, D.D., DiBartola, S.P., Radin, J. :
Effect of enalapril on blood pressure, renal function, and the renin-angiotensin-aldosterone system in cats with autosomal dominant polycystic kidney disease American Journal of Veterinary Research 60:1516-1525, 1999. Pubmed reference: 10622161.
Mylonakis, M.E., Patsikas, M.N., Koutinas, A.F., Kaldrymidou, H., Plevraki, K. :
Polycystic kidney disease in a Persian cat Australian Veterinary Practitioner 29:59-+, 1999.
Sassnau, R., Kirchhoff, A. :
Feline cystic kidney disease and elimination problems - two cases [German] Praktische Tierarzt 80:104-+, 1999.
1998 Bosje, J.T., van, den, Ingh, T.S.G.A.M., van, der, Linde-Sipman, J.S. :
Polycystic kidney and liver disease in cats Veterinary Quarterly 20:136-139, 1998. Pubmed reference: 9810628.
Meyer-Lindenberg, A., Janthur, M., Sommer, B., Nolte, I. :
Investigations on polycystic kidney degeneration in Persian cats [German] Praktische Tierarzt 79:1122-+, 1998.
1997 Eaton, K.A., Biller, D.S., Dibartola, S.P., Radin, M.J., Wellman, M.L. :
Autosomal dominant polycystic kidney disease in Persian and Persian-cross cats Veterinary Pathology 34:117-126, 1997. Pubmed reference: 9066078.
1996 Biller, D.S., Dibartola, S.P., Eaton, K.A., Pflueger, S., Wellman, M.L., Radin, M.J. :
Inheritance of polycystic kidney disease in Persian cats Journal of Heredity 87:1-5, 1996. Pubmed reference: 8742815.
1995 Feldhahn, J. :
Polycystic kidney disease in a persian cat Australian Veterinary Practitioner 25:176-178, 1995.
1992 Horvath, L., Felkai, C., Wladar, S., Simon, L. :
A Case of Polycystic Renal Disease in a Cat Magyar Allatorvosok Lapja 47:685-687, 1992.
Podell, M., Dibartola, S.P., Rosol, T.J. :
Polycystic Kidney Disease and Renal Lymphoma in a Cat Journal of the American Veterinary Medical Association 201:906-909, 1992. Pubmed reference: 1399804.
1990 Biller, D.S., Chew, D.J., Dibartola, S.P. :
Polycystic Kidney Disease in a Family of Persian Cats Journal of the American Veterinary Medical Association 196:1288-1290, 1990. Pubmed reference: 2185204.

Edit History

  • Created by Frank Nicholas on 26 Nov 2007
  • Changed by Martha MaloneyHuss on 18 Aug 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 17 Oct 2012
  • Changed by Frank Nicholas on 05 Jun 2019
  • Changed by Frank Nicholas on 20 Sep 2019
  • Changed by Frank Nicholas on 24 Jul 2020