Autosomal Hereditary Recessive Nephropathy

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Test Overview:

Autosomal Hereditary Recessive Nephropathy (Familial Nephropathy) is an inherited disorder of the kidneys. Symptoms of chronic kidney disease usually start showing between 6 months and 2 years of age. These include excessive thirst and urination, weight loss, fatigue, vomiting, and loss of appetite. Protein is generally not present in urine, however in there is a defect in affected dogs that filters protein from the blood to the kidneys and subsequently lost in the urine. Abnormal amounts of protein can be detected in the urine as early as five months of age. Affected dogs eventually die of chronic kidney failure within a year.

Category:

Urinary system / Urologic - Associated with the kidneys, bladder, ureters and urethra

Gene:

Collagen type IV alpha 4 chain (COL4A4) on chromosome 25

Variant Detected:

Base Substitution c.115A>T p.Lys39STOP

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Davidson AG et al. Genetic Cause of Autosomal Recessive Hereditary Nephropathy in the English Cocker Spaniel. (2007) J Vet Intern Med, 21, 394–401
Lees, G.E. : Kidney diseases caused by glomerular basement membrane type IV collagen defects in dogs. J Vet Emerg Crit Care (San Antonio) 23:184-93, 2013. Pubmed reference: 23464675. DOI: 10.1111/vec.12031.

Associated Breed(s):

American Cocker Spaniel, Australian Cobberdog, Australian Labradoodle , Bernardoodle, Cockapoo, Cocker Spaniel, English Springer Spaniel, Labradoodle , Labradoodle Retrodoodle , Mixed Breed, Spoodle,