Autosomal Hereditary Recessive Nephropathy Overview
Autosomal Hereditary Recessive Nephropathy
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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: Scale 5 is the most extreme in severity. It comprises rapidly fatal diseases that may also cause a significant decrease in the quality of life.
Mode of Inheritance: Autosomal Recessive
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.
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, English Springer Spaniel, Labradoodle , Spoodle, Mixed Breed, Cocker Spaniel, Cockapoo, Australian Labradoodle , Australian Cobberdog, Labradoodle Retrodoodle ,