Disease overview

X-Linked Nephritis is a type of protein-losing nephropathy (PLN) that causes inappropriate loss of protein through the urine. This disorder compromises the filtering function of the kidneys, allowing larger molecules and essential proteins to pass through instead of being retained for use by the body. As this is an x-linked trait, this disease affects predominantly males.

Gene name

COL4A5

Inheritance

X-Linked recessive

Signs and symptoms

Clinical signs typically present around 2-3 months of age, and progress rapidly. These can include muscle wasting, accumulation of fluids presenting as edema, excessive thirst, and excess urination. In cases of kidney failure, signs such as vomiting, poor appetite, lethargy, and changes in thirst and urination may occur.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Diagnostics will likely include urine and blood testing. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Navasota (a mixed breed of dog),

Citations

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 U S A. 1994 Apr 26;91(9):3989-93. doi: 10.1073/pnas.91.9.3989. PMID: 8171024; PMCID: PMC43708.

Bell RJ, Lees GE, Murphy KE. X chromosome inactivation patterns in normal and X-linked hereditary nephropathy carrier dogs. Cytogenet Genome Res. 2008;122(1):37-40. doi: 10.1159/000151314. Epub 2008 Oct 14. PMID: 18931484.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.