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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: COL4A4 on Chromosome 25

Variant Detected: Base Substitution A>T

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):
J Vet Intern Med. 2007 May-Jun; 21(3):394-401. [PubMed: 17552442]
Kidney Int. 1998 Sep;54(3):706-19. [PubMed: 9734596]
Lees, G.E., Helman, R.G., Homco, L.D., Millichamp, N.J., Hunter, J.F., Frey, M.S. : Early diagnosis of familial nephropathy in English Cocker Spaniels Journal of the American Animal Hospital Association 34:189-195, 1998. Pubmed reference: 9590445.


Associated Breed(s): American Cocker Spaniel,  English Springer Spaniel,  Labradoodle ,  Spoodle,  Mixed Breed,  Cocker Spaniel,