Hereditary Nephritis (Samoyed Type)
Affected Genes: COL4A5
Inheritance: X-Linked Recessive
Variant(canFam6):
chrX:68317468: G>T
Breed: Samoyed
General Information: Hereditary Nephritis (HN) (Samoyed Type) is a genetic kidney disease affecting Samoyeds, characterized by the abnormal leakage of protein from the blood into the urine due to defective kidney filtration. This condition typically becomes evident between two and three months of age when affected puppies, both males and carrier females, are noticeably smaller and thinner than their unaffected littermates. By the age of 7 to 15 months, affected dogs begin to show signs of chronic kidney failure, including excessive thirst and urination, vomiting, lack of appetite, weight loss, weakness, and fatigue. Male dogs are more frequently and severely affected due to the X-linked recessive inheritance of the disorder, leading to rapid disease progression and often death by 15 months of age. Female carriers may show milder symptoms with slower progression, although some may remain asymptomatic.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing for Hereditary Nephritis (HN) (Samoyed Type) involves screening for mutations in the COL4A5 gene. The disorder is inherited in an X-linked recessive manner, meaning male dogs only need to inherit one copy of the mutated gene from their mother to be affected, whereas female dogs typically require two copies (one from each parent) to develop the disease. As a result, male puppies born to carrier females have a 50% chance of inheriting the condition. While carrier females can sometimes show mild symptoms, they generally experience slower disease progression. Genetic testing is crucial for identifying carriers and making informed breeding decisions. By avoiding the mating of carrier females, breeders can significantly reduce the risk of producing affected offspring and help eliminate this debilitating condition from breeding lines, ensuring the health and longevity of future generations.
References:
Baumal R, Thorner P, Valli VEO, McInnes R, Marrano P, Jacobs R, Binnington A, Bloedow AG. Renal disease in carrier female dogs with x-linked hereditary nephritis. Am J Pathol. 1991 139(4):751-764.
Jansen B, Valli VE, Thorner P, Baumal R, Lumsden JH. Samoyed glomerulopathy: serial, clinical and laboratory (urine, serum biochemistry and hematology) studies. Can J Vet Res. 1987 51(3):387-393.
Zheng K, Thorner PS, Marrano P, Baumal R, McInnes RR. Canine X chromosome-linked hereditary nephritis: A genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the alpha-5 chain of collagen type IV. Proc Natl Acad Sci USA 1994 91(9):3989-3989.