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)s (MIM numbers): 173900 (trait) , 601313 (gene)

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 name: also called Autosomal Dominant Polycystic Kidney Disease (ADPKD)

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. Guerra et al. (2019) suggest the following diagnostic criteria using renal cyst resolution of 0.3cm for different age groups: up to 15 month of age: 1 renal cyst present; 16 to 32 month of age: 2 uni- or bilateral cysts, 33 to 49 month of age: at least 3 cysts in one of both kidneys; 50 to 66 month of age: 4 uni- or bilateral cysts using renal cyst resolution of 0.3cm (Guerra et al., 2019). Domanjko-Petri et al. (2008) suggest that in cats up to 3 month of age genotyping of the PKD1 variant is a more accurate diagnostic tool compared to ultrasonography. Renal failure develops after a variable amount of time, but onset is usually by seven years of age (range 3 – 10 years of age) (Biller et al., 1996, Eaton et al., 1997). Those developing renal failure often present with polyuria, polydipsia, palpable kidney abnormalities, inappetence, weight loss, dehydration, vomiting, lethargy; they become thin and azotemic, and develop hyperphosphatemia, isosthenuria, nonregenerative anemia, and metabolic acidosis.

(Edited by Rachel Natsume 15/9/2021)

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 incomplete 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).

Domanjo-Petric et al. (2008): "Although the dysfunction of the kidney does not occur until mid to late in life, the cysts are present from birth, although are smaller in younger animals..." Guerra et al. (2019): "Most ADPKD-affected cats develop multiple bilateral renal cysts."

(Edited by Rachel Natsume 15/9/2021)

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."

Moazezi Ghavihelm et al. (2022) reported 47% of 47 Persian and Persian-related cats in Iran heterozygous for the PKD1 c.9882C>A variant (OMIA variant 314).

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: DNA tests (including real-time PCR and PCR-RFLP) are available to detect the mutation (Grahn et al., 2004; Lyons et al., 2004; Helps et al., 2007; Domanjko-Petric et al., 2008)

(Edited by Rachel Natsume 15/9/2021)

Breeds: American Shorthair, Burmilla, Chartreux, Exotic Shorthair, Himalayan, Oriental shorthair, Persian, Persian X, Ragdoll, Scottish Fold, Selkirk Rex, Siamese.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PKD1 polycystic kidney disease 1 (autosomal dominant) Felis catus E3 NC_058383.1 (39397051..39441168) PKD1 Homologene, Ensembl, NCBI gene

Variants

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.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
314 Persian Polycystic kidney disease PKD1 nonsense (stop-gain) Naturally occurring variant Felis_catus_9.0 E3 g.42858112C>A c.9882C>A p.(C3294*) This variant was published as c.10063C>A, p.(C3284*); positions in this table are based on NC_018738.3 and XP_023102816.1, respectively 2004 15466259

References


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.
2022 Moazezi Ghavihelm, A., Jamshidi, S., Ashrafi Tamai, I., Zangisheh, M. :
Molecular detection of polycystic kidney disease in Persian and Persian-related breeds in Iran. JFMS Open Rep 8:20551169211070991, 2022. Pubmed reference: 35127116. DOI: 10.1177/20551169211070991.
2021 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 81:392-7, 2021. Pubmed reference: 32491055. DOI: 10.1590/1519-6984.227131.
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.
Schirrer, L., Marín-García, P.J., Llobat, L. :
Feline polycystic kidney disease: An update. Vet Sci 8:, 2021. Pubmed reference: 34822642. DOI: 10.3390/vetsci8110269.
2020 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.
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 21:4537, 2020. Pubmed reference: 32630605. DOI: 10.3390/ijms21124537.
2019 Guerra, J.M., Freitas, M.F., Daniel, A.G., Pellegrino, A., Cardoso, N.C., de Castro, I., Onuchic, L.F., Cogliati, B. :
Age-based ultrasonographic criteria for diagnosis of autosomal dominant polycystic kidney disease in Persian cats. J Feline Med Surg 21:156-164, 2019. Pubmed reference: 29652208. DOI: 10.1177/1098612X18764591.
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 81:1006-1011, 2019. Pubmed reference: 31155548. DOI: 10.1292/jvms.18-0309.
Torres, J.A., Kruger, S.L., Broderick, C., Amarlkhagva, T., Agrawal, S., Dodam, J.R., Mrug, M., Lyons, L.A., Weimbs, T. :
Ketosis ameliorates renal cyst growth in polycystic kidney disease. Cell Metab 30:1007-1023.e5, 2019. Pubmed reference: 31631001. DOI: 10.1016/j.cmet.2019.09.012.
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.
2012 Paepe, D., Saunders, J.H., Bavegems, V., Paes, G., Peelman, L.J., Makay, C., Daminet, S. :
Screening of ragdoll cats for kidney disease: A retrospective evaluation. J Small Anim Pract 53:572-7, 2012. Pubmed reference: 22860918. DOI: 10.1111/j.1748-5827.2012.01254.x.
2010 Volta, A., Manfredi, S., Gnudi, G., Gelati, A., Bertoni, G. :
Polycystic kidney disease in a Chartreux cat. J Feline Med Surg 12:138-40, 2010. Pubmed reference: 19716738. DOI: 10.1016/j.jfms.2009.06.001.
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.
Hosseininejad, M., Vajhi, A., Marjanmehr, H., Hosseini, F. :
Polycystic kidney in an adult Persian cat: clinical, diagnostic imaging, pathologic, and clinical pathologic evaluations. Comp Clin Pathol 18:95, 2009. DOI: https://doi.org/10.1007/s00580-008-0744-0.
2008 Domanjko-Petric, A., Cernec, D., Cotman, M. :
Polycystic kidney disease: a review and occurrence in Slovenia with comparison between ultrasound and genetic testing. J Feline Med Surg 10:115-9, 2008. Pubmed reference: 17988914. DOI: 10.1016/j.jfms.2007.07.004.
2007 Bonazzi, M., Volta, A., Gnudi, G., Bottarelli, E., Gazzola, M., Bertoni, G. :
Prevalence of the polycystic kidney disease and renal and urinary bladder ultrasonographic abnormalities in Persian and Exotic Shorthair cats in Italy. J Feline Med Surg 9:387-91, 2007. Pubmed reference: 17498994. DOI: 10.1016/j.jfms.2007.03.004.
Helps, C., Tasker, S., Harley, R. :
Correlation of the feline PKD1 genetic mutation with cases of PKD diagnosed by pathological examination. Exp Mol Pathol 83:264-268, 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 Barthez, P.Y., Rivier, P., Begon, D. :
Prevalence of polycystic kidney disease in Persian and Persian related cats in France. J Feline Med Surg 5:345-7, 2003. Pubmed reference: 14623204. DOI: 10.1016/S1098-612X(03)00052-4.
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.
Greco, D.S. :
Congenital and inherited renal disease of small animals. Vet Clin North Am Small Anim Pract 31:393-9, viii, 2001. Pubmed reference: 11265498. DOI: 10.1016/s0195-5616(01)50211-9.
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.
Lees, G.E. :
Congenital renal diseases. Veterinary Clinics of North America - Small Animal Practice 26:1379 ff., 1996.
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.
1987 Lulich, J.P., Osborne, C.A., Lawler, D.F., O'Brien, T.D., Johnston, G.R., O'Leary, T.P. :
Urologic disorders of immature cats. Vet Clin North Am Small Anim Pract 17:663-96, 1987. Pubmed reference: 3300002. DOI: 10.1016/s0195-5616(87)50059-6.

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
  • Changed by Imke Tammen2 on 30 Aug 2021
  • Changed by Imke Tammen2 on 15 Sep 2021
  • Changed by Frank Nicholas on 09 Feb 2022
  • Changed by Imke Tammen2 on 21 May 2022