Polycystic Kidney Disease (PKD1)

Quick Summary

Feline polycystic kidney disease (PKD1) is a heritable form of polycystic kidney disease commonly seen in Persians and cats with Persian ancestry. Affected cats develop cysts on their kidneys, which often leads to renal failure at a later stage.

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: = 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, 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.
Price

$40 one test per animal

Also available as part of the following packages:

$65 this test + Persian PRA (PRA-pd) test
$65 this test + Scottish Fold

$65 this test + one test from list below
$90 this test + two tests from list below
$115 this test + all tests from list below

Additional Details

Polycystic Kidney Disease (PKD) is a well documented abnormality in domestic cats. Cystic kidneys can sporadically occur in any population of cats. PKD is not a new disease and has been reported in the literature for over 30 years. The heritable form of PKD1 may not have initially occurred in Persians as a new mutation, but perhaps in random bred cats. Unfortunately, PKD1 does not have a strong clinical presentation. The presentation of PKD1 is similar to one of the most common causes of death for any cat, renal failure. Thus, PKD1 has gone unnoticed for many years and has spread throughout the Persian breed. Any breed that has used Persians in their foundation or propagation should have concerns for PKD1.

Early onset, bilateral presentation (both kidneys), and multiple cysts are all traits of the heritable form of the disease. The kidney cysts for PKD1 present early, often before 12 months of age. Renal failure, however, usually occurs at a later age. Thus, PKD1 is considered a late onset renal disease. In the fancy cat breeds, PKD1 is inherited as an autosomal dominant condition. This implies that only one copy of the altered version of the gene is required to produce PKD1. Generally, 50% of PKD1 positive cats' offspring will inherit PKD1. A positive cat could potentially be homozygous for PKD1 and all offspring produced would have PKD1. It is suspected that cats that are homozygous for PKD1 are not abundant and the homozygote form could be lethal in utero or severely affected at a very early age. Further research is required to determine the effects of the homozygous condition.

It is estimated over 37% of Persians have PKD1, a breed that accounts for nearly 80% of the cat fancy. Many lines and catteries have been able to greatly reduce this frequency by using ultrasound screening methods and improved breeding practices.

Sections reprinted with permission of Leslie A. Lyons, Ph.D.

Turnaround Time
2-6 business days
Type of Sample

Species

Cat

Type of Test

Results Reported As
Test Result Polycystic Kidney Disease
N/N Normal. Does not possess the disease-causing PKD1 gene.
N/P

Affected. 1 copy of the PKD1 gene. Cat has or will develop PKD. Severity of symptoms cannot be predicted.

P/P Presumed lethal.
References

Lyons, L.A., Biller, D.S., Erdman, C.A., Lipinski, M.J., Young, A.E., Roe, B.A., Qin, B., & Grahn, R.A. (2004). Feline polycystic kidney disease mutation identified in PKD1. Journal of the American Society of Nephrology, 15(10), 2548-2555. doi: 10.1097/01.ASN.0000141776.38527.BB