Autosomal-dominant polycystic kidney disease in English Bull Terriers (BTPKD)

This polycystic kidney disease is an inherited disease that occurs in humans, dogs, cats and other animals.

The disease is characterized by the formation of fluid-filled cysts in the kidneys. These cysts endanger the function of kidneys and may result in kidney failure and death of the affected animal.  PKD is an incurable chronic disease and the disease severity level differs case by case. The clinical signs of the disease depend on the size and number of cysts in the kidneys. With the increasing age of the affected animal, the cysts become gradually larger and more numerous. The larger part of the kidneys functional tissue is replaced with non-functional cysts, the sooner occur the signs of renal failure – gradual loss of appetite, loss of weight, increase water consumption, increased urination, etc. The chronic failure of the kidneys occurs in principle in middle-aged dogs.

The BTPKD can be detected by ultrasound screening of the kidneys. However, this method is expensive and requires an experienced operator and especially at the early stage of the disease it is difficult to determine the definitive diagnosis and the ultrasonic examination must be frequently repeated.

In 2011, a new mutation c.9772G>A in exon 29 of gene PKD1 has been identified which is responsible for BTPKD in English Bull Terriers (Gharahkhani et al., 2011). The BTPKD-disease is an autosomal dominant hereditary disease – this means that each dog carrying one copy of the mutated gene will develop the disease. With regard to the dominant inheritance, we recommend examination of the dog health condition prior to the planned breeding and mating.

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References:

Gharahkhani P, O'Leary CA, Kyaw-Tanner M, Sturm RA, Duffy DL (2011) A Non-Synonymous Mutation in the Canine Pkd1 Gene Is Associated with Autosomal Dominant Polycystic Kidney Disease in Bull Terriers. PLoS ONE 6(7): e22455. doi:10.1371/journal.pone.0022455