Feline Polycystic Kidney Disease (PKD)

Acronym: PKD, FPKD
Gene: PKD1
Mutation: c.9882C>A
Inheritance: Autosomal dominant
Sample type: CHS (Cheek Swab), WBE (Whole Blood EDTA)


Genetics and characteristics

Feline polycystic kidney disease is an inherited disorder characterized by the development of small, closed, liquid-filled sacs in the tissue of the feline kidney. These sacs often multiply in number and grow in size over time, eventually outnumbering normal kidney tissue and often leading to potentially fatal kidney failure. Kidney function deteriorates with age and kidney disease occurs between 3 and 10 years of age, with an average of seven years. Kidney cysts are evident through ultrasound scans by 8-10 months of age, although the severity and progression of the disease vary widely between individuals. Mildly affected cats may throw more severely affected offspring and vice-versa.

PKD in cats is characterized by renal as well as hepatic and pancreatic cysts and has an autosomal dominant mode of inheritance. Approximately 38% of Persian cats in the United States and worldwide are positive for PKD. Purebred cats represent ~20% of the cat population in the United States, and Persian-type breeds constitute 80% of the cat fancy; hence, PKD is the most prominent inherited feline disease. The causative mutation of the PKD-1 gene has been identified and a DNA test is available for Persian and related breeds.

 


Results Reported As

 
Test Result
Interpretation of test result
CLEAR 
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. 
 AFFECTED HETEROZYGOTE
Tested mutation was detected in animal with „affected heterozygote“ result. Animal tested as affected heterozygote has one wild-type and one mutation allele, it is in heterozygous state. It is likely to develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. 
AFFECTED 
 Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring.

 

 

 

 

 

 

 

 

 

 

*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.

**Penetrance of tested mutation, and potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.

 


References:

Lyons, L.A., Biller, D.S., Erdman, C.A., Lipinski, M.J., Young, A.E., Roe, B.A., Qin, B., and Grahn, R.A. (2004). Feline polycystic kidney disease mutation identified in PKD1. J. Am. Soc. Nephrol. 15, 2548–2555.

Shelton, L. and Helmrich, H.G. (2006). Heritable diseases and abnormalities in cats.

 


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Suitable for breeds

BIRMAN BRITISH LONGHAIR BRITISH SEMI-LONGHAIR BRITISH SHORTHAIR CHARTREUX COLORPOINT SHORTHAIR EXOTIC SHORTHAIR PERSIAN (MODERN PERSIAN CAT) PERSIAN (TRADITIONAL PERSIAN CAT) RAGDOLL RUSSIAN BLUE SCOTTISH FOLD SELKIRK REX SPHYNX TURKISH ANGORA