Polycystic Kidney Disease (Bull Terrier Type)



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


Urogenital (Associated with the Urinary and Genital Tracts)


PKD1 gene, chr6

Variant Detected:

c.9772G>A, E3258K


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):

Associated Breed(s):

Bull Terrier, Miniature Bull Terrier,