Polycystic Kidney Disease (Bull Terrier Type)

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Test Overview:

Polycystic Kidney Disease is an autosomal dominant disease common in some lines of Bull Terriers (BTPKD). All cases of reported BTPKD to date in Australia descend from two affected half-siblings, making it very likely that there is only one disease-causing mutation in the Australian Bull Terrier population. Interestingly, these half-sibs were recently descended from an imported animal, suggesting the disease may well be international and due to this one mutation

Category:

Urogenital (Associated with the Urinary and Genital Tracts)

Gene:

PKD1 gene, chr6

Variant Detected:

c.9772G>A, E3258K

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Dominant

Research Citation(s):

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3144903/

Associated Breed(s):

Bull Terrier, Miniature Bull Terrier,