NAVLE Urinary

Feline Polycystic Kidney Disease Study Guide

Polycystic Kidney Disease (PKD), also known as Autosomal Dominant Polycystic Kidney Disease (AD-PKD), is the most common inherited renal disease of cats and one of the leading causes of chronic kidney disease (CKD) in Persian and Persian-related...

Overview and Clinical Importance

Polycystic Kidney Disease (PKD), also known as Autosomal Dominant Polycystic Kidney Disease (AD-PKD), is the most common inherited renal disease of cats and one of the leading causes of chronic kidney disease (CKD) in Persian and Persian-related breeds. This slowly progressive, irreversible condition is characterized by the development of multiple fluid-filled cysts within the renal parenchyma, and occasionally in the liver and pancreas. Understanding PKD is essential for NAVLE success, as questions frequently address breed predispositions, inheritance patterns, diagnostic approaches, and management strategies.

High-YieldPKD affects approximately 37% of Persian cats worldwide. It is caused by a mutation in the PKD1 gene with autosomal dominant inheritance and 100% penetrance. There is NO cure - management follows standard CKD protocols.
Feature Description
Inheritance Autosomal dominant
Penetrance 100% (complete) - all cats with the mutation develop cysts
Heterozygous (N/P) Affected; will transmit to 50% of offspring
Homozygous (P/P) Suspected embryonic lethal - no live P/P cats identified
Sex Predilection None - males and females equally affected

Etiology and Genetics

Molecular Basis

Feline PKD results from a point mutation in the PKD1 gene located on chromosome E3. Specifically, there is a C to A transversion at position 3284 in exon 29 (c.10063C>A), which creates a premature stop codon. This results in a truncated polycystin-1 protein with 25% of its C-terminal region missing.

Polycystin-1 is a renal tubule membrane glycoprotein essential for:

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