Polycystic Kidney Disease (PKD) – Maine Coon

21 June 2022

Polycystic kidney disease is a hereditary disease that results in the formation of many cysts (fluid sacs) inside the kidneys. This pathology is a genetically determined nephropathy with bilateral cystosis of the collecting ducts and tubules of the nephron, inherited in an autosomal dominant manner.

Polycystic disease often manifests itself in adulthood. Prior to this, the disease may not manifest itself in any way and not be detected during a routine examination by a doctor, since the size of the kidneys remains normal. Abnormalities in the structure of the kidneys and cysts are present in affected cats already at birth, but these changes are minimal and the cysts are very small. With age, their size and number increases up to the complete replacement of the normal structure of the kidney with cavities of various sizes. As the disease progresses and the normal structure of the kidneys is disturbed, their function cannot but decrease. A decrease in kidney function is characterized by chronic renal failure (CRF), which is usually the first alarming symptom of this disease.

Any breed based on Persian cats is at risk for PKD1.

Genotype options:

N/N – Homozygous for the normal type allele (both copies of the PKD1 gene do not contain the 10063C>A mutation).

N/pkd1 – Heterozygous for the mutant type allele (one of the copies of the PKD1 gene contains the 10063C>A mutation).

pkd1/pkd1 – Homozygous for the mutant type allele (both copies of the PKD1 gene contain the 10063C>A mutation). High probability of death of the animal at the stage of embryogenesis or in the first weeks of life.

This test detects the 10063C>A transversion associated with autosomal dominant polycystic kidney disease in domestic cats, as described by Lyons et al., 2004.

The presence of at least one copy of the PKD1 gene containing the 10063C>A mutation leads to the development of the disease.

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