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Phenotype: The presentation of PKD1 is similar to one of the most common causes of death for any cat, renal failure. Early onset, bilateral presentation (both kidneys), and multiple cysts are all traits of PKD1. The kidney cysts for PKD1 present early, often before 12 months of age. Renal failure, however, usually occurs at a later age.
Mode of Inheritance: Autosomal dominant
Alleles: N= Normal/Unaffected, P= Polycystic kidney disease (PKD1)
Breeds appropriate for testing: Persian, Persian crosses and Persian-derived breeds (includes British Longhair, British Shorthair, Burmilla, Domestic Shorthair, Exotic Longhair, Exotic Shorthair, Foldex, Highland Fold, Highland Straight, Himalayan, Maine Coon, Napoleon, Ragamuffin, Ragdoll, Scottish Fold, Scottish Straight, Selkirk Rex), Devon Rex, Siberian
- Cats with N/N genoytpe will not have this heritable form of polycystic kidney disease and cannot transmit this PKD1 variant to their offspring.
- Cats with N/P genotype will be affected by this heritable form of polycystic kidney disease, though severity of symptoms cannot be predicted. They will transmit this PKD1 variant to 50% of their offspring, and those offspring will inherit this polycystic kidney disease.
- Cats with P/P genotype are suspected to be lethal and therefore are unlikely to be born and/or survive.