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H509

Polycystic Kidney Disease (PKD) is a common condition in animals, characterized by the development of cysts in the kidneys over the animal's lifetime.

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Caractéristiques

Breeds

Gene

Chromosome

6

Mutation

c.9559G>A

Mode of Inheritance

Autosomique dominante

Organ

Specimen

Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu

Also known as

PKD

Informations générales

Polycystic Kidney Disease (PKD) is a common condition in animals, characterized by the development of cysts in the kidneys over the animal’s lifetime. These cysts exert pressure on healthy kidney tissue, leading to a loss of kidney function. The disease results from an autosomal dominant mutation in the PKD1 gene and is observed in Bull Terriers, where it is also known as Bull Terrier PKD (BTPKD).

Caractéristiques cliniques

PKD causes a progressive decline in kidney function, with symptoms typically appearing in adulthood. Common symptoms include loss of appetite, excessive drinking and urination, vomiting, and lethargy. In Bull Terriers with PKD, the disease may also lead to hypertension (high blood pressure). This is likely due to an increased prevalence of cardiac conditions in dogs with this variant of PKD including mitral valve disease (MVD) and potentially severe left ventricular outflow tract obstruction (LVOTO).

Additional Information

Références

Pubmed ID: 21818326

Year published: 2011

Omia ID: 807

Omia variant ID: 72

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