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Bull Terrier Polycystic Kidney Disease
| Acronym: | BTPKD |
| Gene: | PKD1 |
| Mutation: | c.9559G>A |
| Inheritance: | Autosomal dominant |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Bull Terrier polycystic kidney disease is a progressive and irreversible kidney disease that often results in renal failure. It is a breed-specific syndrome in Bull Terriers. Similar conditions have been identified in Golden Retrievers, Blue Merle Collie, and West Highland White Terriers. Bull Terrier polycystic kidney disease was for the first time reported in 1994. Other than BTPKD, another kidney disease affecting the Bull Terriers Hereditary Nephritis, they differ in disorder characteristics and genetics. Kidneys are organs important for regulating the plasma and tissue fluid in the body. This is achieved with kidneys filtering toxins out of the body by forming urine. With the formation of urine, also other important values are being regulated, such as the volume of blood plasma, the concentration of waste products in the blood, the concentration of electrolytes in the plasma, and plasma’s pH. When the kidneys do not function properly and cannot perform their primary function, the toxins will remain in the body, concentrating in the blood, causing also rising blood pressure and consequently stress to other body organs.
Characteristics of BTPKD are at least three cysts located in the renal cortex and renal medulla between to kidneys. Detection of cysts is possible with the usage of ultrasonography, but a definitive diagnosis requires DNA testing. When using ultrasonography as a way of testing, breeders cannot be sure they have a BTPKD clear line before five generations of testing. Signs of BTPKD have increased water consumption, increased urination, bad breath, sudden weight loss, blisters, shivering, lethargy, and vomiting. Many affected dogs can seem to live everyday life, performing all activities regularly, without any signs of polycystic kidney disease until the final stages of the disorder. In some cases, severe symptoms appear within the time frame of 24 hours, which is a great shock to the owner. In this final stage, the veterinarian has not had any options to reduce the symptoms and has to euthanize the dog. The age of the already progressed stage of PKD varies among dogs, between 2 years to 8 years, but can also occur earlier or later than that. BTPKD is caused by a mutation in the PKD1, located at the CFA06. The disorder is inherited in an autosomal dominant manner with equal prevalence in both genders. Dog carrying one copy of the mutated gene (heterozygous dog) is affected. Homozygous animals for Pkd1 mutation die embryonically.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
AFFECTED HETEROZYGOTE |
Tested mutation was detected in animal with „affected heterozygote“ result. Animal tested as affected heterozygote has one wild-type and one mutation allele, it is in heterozygous state. It is likely to develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
**Penetrance of tested mutation, and potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Gharahkhani, P. (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.
O’Leary, CA. (1999.): Polycystic kidney disease in Bull Terriers: an autosomal dominant inherited disorder. Aust Vet J 77: 361-366.