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Autosomal Hereditary Recessive Nephropathy

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:

chr25:39953906 (canFam3): A>T

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, Bell RJ, Lees GE, Kashtan CE, Davidson GS, Murphy KE. Genetic cause of autosomal recessive hereditary nephropathy in the English Cocker Spaniel. J Vet Intern Med. 2007 May-Jun; 21(3):394-401. [PubMed: 17552442] Donner J, Kaukonen M, Anderson H, Moller F, Kyostila K, Sankari S, Hytonen M, Giger U, Lohi H. Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One. 2016 Aug 15;11(8):e0161005. [PubMed: 27525650] Lees GE, Helman RG, Kashtan CE, Michael AF, Homco LD, Millichamp NJ, Ninomiya Y, Sado Y, Naito I, Kim Y. A model of autosomal recessive Alport syndrome in English cocker spaniel dogs. Kidney Int. 1998 Sep;54(3):706-19. [PubMed: 9734596]

Associated Breed(s):

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

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