Polycystic Kidney Disease

 

About the disease

Autosomal dominant polycystic kidney disease (AD-PKD) is a common problem in Persian cats and related breeds, especially Chinchillas, Exotics and British Shorthairs. The Molecular Diagnostic Unit has been offering a genetic test to diagnose autosomal dominant polycystic kidney disease (AD-PKD) in cats since April 2005

 

 

 

About the test

This genetic test is a PCR and evaluations of the test have shown excellent agreement with the results of ultrasound screening. The test has revolutionised testing for AD-PKD.

Until recently specialist ultrasound scanning was been required for diagnosis, but the identification of a specific genetic mutation associated with feline AD-PKD means that PCR can now be used to identify affected cats.

Cats screened using our genetic test and found to be negative for the PKD mutation can be listed on the ICC PKD negative register.

The following graph shows the percentage of PKD affected cats detected by the Molecular Diagnostic Unit between 2005 and 2014. This clearly shows a decline in the percentage of cats testing positive for the AD-PKD genetic mutation, which is likely due to AD-PKD screening and selective breeding.

 

FAQs

Can my cat be included on the ICC negative register?

Yes it can!

Cats screened using our genetic test and found to be negative for the PKD mutation can be listed on the ICC PKD negative register.

For Inclusion on the ICC PKD Negative Register, the sample submitted for PKD testing MUST be taken by a veterinary surgeon and labelled with the cat's microchip number. Your vet must complete a vet checked submission form, which you will need to include when you send us your swabs.

 

 

Which breeds are affected?

High risk of PKD

Persian Chinchilla Exotic Shorthair British Shorthair Himalayan

Moderate risk of PKD

Asian Birman Burmilla Bombay Cornish Rex
Devon Rex Ragdoll Scottish Fold Selkirk Rex Siberian
Snowshoe Tiffanie      

 

 

Interpretation of results

A Normal AD-PKD genetic test result means that the cat does not have the respective genetic mutation.

An Affected AD-PKD genetic test result means that the cat has one normal and one mutant copy of the PKD1 gene. Presence of the mutant PKD1 gene has been strongly associated with polycystic kidney disease.

Each certificate we issue will specify whether the cat is Normal or Affected for the PKD1 mutation.

 

Further information

View and print article by Dr Chris Helps: From Ultrasound to Genetic Testing

View and print 'Genetic tests for cats: what the practitioner needs to know' from our Feline Update Archive

More information can be found on the International Cat Care website.

Publications

Helps C.R., Tasker S., Barr F.J., Wills S.J. and Gruffydd-Jones T.J. (2007). 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. Molecular and Cellular Probes. 21, 31-34.

Helps C.R., Tasker, S. and Harley R. (2007). Correlation of the feline PKD 1 genetic mutation with cases of PKD diagnosed by pathological examination. Experimental and Molecular Pathology. 83, 264-268.

Wills S.J., Barrett E.L, Barr F.J., Bradley K.J., Helps C.R., Cannon M.J. and Gruffydd-Jones T.J. (2009). Evaluation of the repeatability of ultrasound scanning for the detection of feline polycystic kidney disease. Journal of Feline Medicine and Surgery. 11(12), 993-996.

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