Disease overview

Familial Nephropathy is a type of protein-losing nephropathy (PLN), which is a term used to describe kidney damage or disease. PLN leads to the 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.

Gene name

COL4A4

Inheritance

Autosomal 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

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Citations

Vidgren G, Vainio-Siukola K, Honkasalo S, Dillard K, Anttila M, Vauhkonen H. Primary hyperoxaluria in Coton de Tulear. Anim Genet. 2012 Jun;43(3):356-61. doi: 10.1111/j.1365-2052.2011.02260.x. Epub 2011 Nov 8. PMID: 22486513.

Disclaimer

McKay LW, Seguin MA, Ritchey JW, Levy JK. Juvenile nephropathy in two related Pembroke Welsh corgi puppies. J Small Anim Pract. 2004 Nov;45(11):568-71. doi: 10.1111/j.1748-5827.2004.tb00206.x. PMID: 15553196.

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. doi: 10.1892/0891-6640(2007)21[394:gcoarh]2.0.co;2. PMID: 17552442.

Nowend KL, Starr-Moss AN, Lees GE, Berridge BR, Clubb FJ, Kashtan CE, Nabity MB, Murphy KE. Characterization of the genetic basis for autosomal recessive hereditary nephropathy in the English Springer Spaniel. J Vet Intern Med. 2012 Mar-Apr;26(2):294-301. doi: 10.1111/j.1939-1676.2012.00888.x. Epub 2012 Feb 28. PMID: 22369189.