Cat (Felis catus) — Polycystic kidney disease, autosomal dominant (ADPKD) (hereditary; OMIA-verified species predisposition)

--- license: permission_granted topic_id: companion_species_health_polycystic_kidney_disease_autosomal_dominant_adpkd_cat category: companion-species-health title: "Cat (Felis catus) — Polycystic kidney disease, autosomal dominant (ADPKD) (hereditary; OMIA-verified species predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-24 from local OMIA database dump." source_file: pdf-raw/species-health/cat_polycystic_kidney_disease_autosomal_dominant_adpkd_1451.txt date_parsed: 2026-08-24 tokens_estimated: 1417 verification: method: substring_match claims: 9 passed: 9 date: 2026-08-24 recovered: false path: companion-species-health/companion_species_health_polycystic_kidney_disease_autosomal_dominant_adpkd_cat/01_companion_species_health_polycystic_kidney_disease_autosomal_dominant_adpkd_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Cat (Felis catus) — Polycystic kidney disease, autosomal dominant (ADPKD) (hereditary; OMIA-verified species predisposition)" url: "https://omia.org/OMIA000807/9685/" retrieved: "2026-08-24" ref: "OMIA species-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (species-specific disorder entries)" needs_review: false

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."---

Cat (Felis catus) — Polycystic kidney disease, autosomal dominant (ADPKD) (hereditary; OMIA-verified species predisposition)

Source: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

• Species: Cat (Felis catus)
• Disorder: Polycystic kidney disease, autosomal dominant (ADPKD)
• Mode of inheritance: No homozygous cats have been identified so far for omia.variant:314, suggesting the homozygous genotype is incompatible with life (Lyons et al., 2004).
• Summary: 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 common causative mutation. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT
• Clin feat: 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 (omia.variant:314), 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 (omia.variant:314) 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 autosomal dominant variants in the gene pool, cats that have a causal variant should be removed from breeding programs.
• Gen test: 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)

Associated gene(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• Gene: Entrez Gene ID 4215839 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: 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&gt;A transversion . . . at c.10063 (human ref NM_000296) in exon 29 [omia.varian…

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• 1990. Polycystic kidney disease in a family of Persian cats. J Am Vet Med Assoc — PubMed:PMID2185204 — OMIA Phene_Article / Article
• 1992. Polycystic kidney disease and renal lymphoma in a cat. J Am Vet Med Assoc — PubMed:PMID1399804 — OMIA Phene_Article / Article
• 1992. A case of polycystic renal disease in a cat. Magyar Allatorvosok Lapja — OMIA Phene_Article / Article
• 1996. Inheritance of polycystic kidney disease in Persian cats. J Hered — PubMed:PMID8742815 | DOI:10.1093/oxfordjournals.jhered.a022945 — OMIA Phene_Article / Article
• 1995. Polycystic kidney disease in a Persian cat. Australian Veterinary Practitioner — OMIA Phene_Article / Article
• 1996. Congenital renal diseases. Veterinary Clinics of North America - Small Animal Practice — OMIA Phene_Article / Article
• 1997. Autosomal dominant polycystic kidney disease in Persian and Persian-cross cats. Vet Pathol — PubMed:PMID9066078 | DOI:10.1177/030098589703400204 — OMIA Phene_Article / Article
• 1998. Polycystic kidney and liver disease in cats. Veterinary Quarterly — PubMed:PMID9810628 — OMIA Phene_Article / Article
• 1998. Investigations on polycystic kidney degeneration in Persian cats [German]. Praktische Tierarzt — OMIA Phene_Article / Article
• 1999. Feline cystic kidney disease and elimination problems - two cases [German]. Praktische Tierarzt — OMIA Phene_Article / Article
• 1999. Polycystic kidney disease in a Persian cat. Australian Veterinary Practitioner — OMIA Phene_Article / Article
• 1999. PKD (polycystic kidney disease) - Polycystic syndrome [German]. Praktische Tierarzt — OMIA Phene_Article / Article
• (52 additional references in OMIA)

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• OMIM:173900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:601313 (type: gene) — OMIA Group_OMIM (via OMIA_ID)