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Alport Syndrome/ Hereditary Nephritis (Samoyed Type)

Alport Syndrome/ Hereditary Nephritis (Samoyed Type)

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Test Overview:

Hereditary nephritis (samoyed type) is an inherited disorder of the kidneys affecting dogs. Normally protein is not present in the urine, but in affected dogs there is a defect that allows protein from the blood to be filtered by the kidneys and lost in the urine. Abnormal amounts of protein can be detected in the urine between two and three months of age at which time both affected male and Carrier female puppies are noted to be smaller and thinner than their unaffected littermates. Affected dogs begin showing signs of chronic kidney failure between 7 and 15 months of age. Symptoms of chronic kidney disease include excessive thirst and urination, vomiting, inappetence, weight loss, weakness and fatigue. If drinking excessively, some dogs may also inappropriately urinate in the house or in a crate. Due to its X-Linked Inheritance, male dogs are more frequently affected with this disease than female dogs. Female dogs which carry this Mutation can also show signs of kidney disease however, disease progression in females is generally slower with some dogs showing minimal to no signs of kidney disease. Affected male dogs eventually die of chronic kidney failure by 15 months of age.

Category:

Urinary system / Urologic - Associated with the kidneys, bladder, ureters and urethra

Gene:

COL4A5 on Chromosome 5

Variant Detected:

G to T substitution in exon 35 g.85286582_3insC and g.85286582delC

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal X-Linked

Research Citation(s):

Am J Pathol. 1991 Oct;139(4):751-64. [PubMed: 1928300]
Can J Vet Res. 1987 Jul;51(3):387-93. [PubMed: 3651895]
Zheng K, Thorner PS, Marrano P, Baumal R, McInnes RR.
Proc Natl Acad Sci USA. 1994 Apr 26;91(9):3989-9. [PubMed: 8171024]

Associated Breed(s):

Mixed Breed, Samoyed,

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