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Autosomal Hereditary Recessive Nephropathy Overview

Autosomal Hereditary Recessive Nephropathy
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Category: Urogenital (Associated with the Urinary and Genital Tracts)

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

Associated Breed(s): American Cocker Spaniel,  English Springer Spaniel,  Labradoodle ,  Spoodle,  Mixed Breed,  Cocker Spaniel,  Cockapoo,  Australian Labradoodle ,  Australian Cobberdog,  Labradoodle Retrodoodle ,