Polycystic Kidney Disease

 

Gene: PKD1

Transmission: Autosomal dominant

For an autosomal dominant genetic disease, an animal must have at least one copy of the mutation in question to be at risk of developing the disease.  Animals with two copies of the mutation generally have more severe symptoms and an earlier onset of the disease than animals with just one copy of the mutation.  One or both of the parents of an animal with the mutation has one or two copies of the mutation.  Animals that have one or two copies of the mutation can pass the mutation on to future generations.

Mutations:

Bull Terrier mutation: Substitution, PKD1 gene; c.9772 G>A, p,(E3187K), exon 29

Lagotto Romagnolo mutation: Substitution, PKD1 gene; c.7195 G>T, p.(E2399 STOP)

Medical system: Renal

Breeds: American Staffordshire Terrier/Amstaff, Bull Terrier, Bull Terrier-Miniature, Labrador Retriever, Lagotto Romagnolo

Age of onset of symptoms: Middle aged to old age

Bull Terrier Polycystic Kidney Disease (BTPKD) is an autosomal dominant genetic disease reported in the English Bull Terrier breed.  The disease affects middle aged and older dogs and is characterized by the formation of bilateral cysts within the kidneys.  Renal cyst formation can result in renal failure with symptoms including protein in the urine (proteinuria), blood in the urine (hematuria) and bacterial infections in the urine (pyuria).  In the presence of the mutation within the PKD1 gene, the disease has a high rate of penetration.  Early DNA testing is a valuable tool to reduce the use of M/N carrier (at risk) animals in breeding programs.

 

References:

OMIA link: [0807-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Drögemüller M, Klein N, Steffensen RL, et al. (2023) PKD1 nonsense variant in a Lagotto Romagnolo family with polycystic kidney disease. Genes (Basel) 14(6) :1210.  [pubmed/37372390]

Koslowski S, Latapy C, Auvray P, et al. (2020) An overview of in vivo and in vitro models for autosomal dominant polycystic kidney disease: A journey from 3D-cysts to mini-pigs. Int J Mol Sci 21:4537.  [pubmed/32630605]

Gharahkhani P, O’Leary C, Kyaw-Tanner M, et al. (2011) A non-synonyous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers. PLoS One 6(7). [pubmed/21818326]

O’Leary C, Mackay BM, Malik R, et al. (1999) Polycystic kidney disease in Bull Terriers: an autosomal dominant inherited disorder. Australian VeterinaryJournal 77:361-366. [pubmed/10812399]

 

Contributed by: Emily Morgan, Class of 2020, Faculty of Veterinary Medicine, University of Montreal.