Polycystic Kidney Disease (PKD1)
PKD
Polycystic Kidney Disease (PKD) is an inherited condition in cats that presents with the formation of fluid-filled cysts in the kidney and occasionally the liver and pancreas. These cysts can disrupt normal kidney function and eventually lead to renal failure. Disease progression can vary and depends on the size and number of cysts. Symptoms of the disease can be observed anywhere from birth through about 8 years of age and can include fever, increased urination, increased water intake, weight loss, and lethargy. PKD diagnosis can involve a physical examination including ultrasound to detect the presence of cysts. There is unfortunately no cure for PKD but treatment to support the cat’s health can include increased water intake, special diets, and potassium or calcium supplements to aid kidney function.
Reading Your Results
A. (CLEAR/NORMAL):
These cats have two copies of the normal gene and will neither develop Polycystic Kidney Disease nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These cats have one copy of the normal gene and one copy of the mutation associated with this disease. They will develop Polycystic Kidney Disease and will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These cats have two copies of the mutation associated with Polycystic Kidney Disease which is suspected to be lethal and result in offspring unlikely to be born or survive.
Additional Details
Inheritances
Autosomal Dominant
Affected gene
PKD1
Chromosome
Ch. E3
Mutation
c.10063: C>A in exon 29
Publication:
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. [PubMed: 15466259]
