Other names: Nephropathy, FN, HN
Affected genes: COL4A4
Inheritance: Autosomal recessive
Mutation: CanFam3.1 25g.39953906T>A c.115A>T p.(K39*)
OMIA link: 000710-9615

Appropriate breeds for testing: American Cocker Spaniel, English Cocker Spaniel

Symptoms:
Familial Nephropathy (American and English Cocker Spaniel) is an inherited kidney disease affecting dogs. Symptoms of the disease in affected dogs appear between 6 months and 2 years of age. Abnormal amounts of protein can be detected in the urine as early as five months of age. Symptoms of kidney disease are excessive thirst and urination, vomiting, loss of appetite and weight, weakness and fatigue. Affected dogs eventually die of chronic kidney failure before the age of 2 years.

References:
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]