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Polycystic Kidney Disease

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Test Overview:

All breeding cats in at-risk breeds should be genetically tested for the PKD1 mutation to identify carriers. Cats testing positive for the PKD1 mutation should not be bred to prevent passing the disease to offspring. Breeding only cats negative for the PKD1 mutation is recommended to eliminate the disease progressively. Ultrasound screening can help detect cysts early in young cats. Breeders should avoid mating affected cats to minimize disease spread and promote population health. Transparency in genetic results among breeders supports responsible breeding practices.

Category:

Urogenital (Associated with the Urinary and Genital Tracts)

Gene:

PKD1

Variant Detected:

Base Substitution C>A

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Dominant with Incomplete Penetrance

Recommended Screening:

1. Genetic (DNA) testing performed on all kittens at any age (e.g. 8 - 17 weeks) 2. Ultrasound screening of kidneys - recommended at 10 months of age for maximal sensitivity

Research Citation(s):

Lyons et al (2004) J am. Soc neprhol 15:2548-2555

Associated Breed(s):

Abyssinian, African Short Hair, American Bobtail , American Curl, American Ringtail, American Shorthair, Angora, Asian, Australian Mist , Balinese, Bambino, Bengal, Birman, Bombay, British Black Tipped, British Longhair, British Red Spot, British Shorthair, British Shorthair/Longhair, Burmese, Burmilla, Calico, California Spangled, Chantilly, Chartreux, Chausie, Chinchilla, Colourpoint Shorthair, Colourpoint Siberian Forest Cat, Cornish Rex, Devon Rex, Domestic Leopard Cat, Domestic Medium / Long Hair, Domestic Short Hair, Don Hairless, Don Sphynx, Egyptian Black, Egyptian Mau, Elf Cat, European, Exotic , Exotic Longhair, Exotic Shorthair, Foreign White, German Rex, Havana Brown, Highland Fold, Himalayan, Japanese Bobtail, Javanese, Khao Manee, Korat, Kurilian Bobtail Short Haired, LaPerm , Lykoi, Maine Coon, Mandalay, Manx , Minuet, Munchkin Short/Long Haired, Neva Masquerade, Norwegian Forest Cat, Ocicat, Ojos Azules, Oriental , Oriental Long Hair, Oriental Short Hair, Persian , Persian Blue, Persian Colourpoint, Persian Smoke, Persian Tabby, Peterbald, PixieBob, Ragamuffin, Ragdoll, Rex , Russian Black, Russian Blue, Russian White, Savannah, Scottish Fold, Scottish Fold Long Haired, Scottish Fold Short Haired, Scottish Short Hair, Scottish Straight, Scottish Wildcat, Selkirk Rex, Serengeti, Seychellois Short/Long Hair, Siamese, Siberian, Siberian Forest Cat, Singapura, Snowshoe, Sokoke, Somali , Somali Long Hair, Somali Short Hair, Sphynx, Tiffany, Tonkinese, Toybob, Toyger, Turkish Angora, Turkish Van, York Chocolate,
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