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Fanconi Syndrome - SINGLE ASSAY TEST

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Test Overview:

Fanconi syndrome affects dogs and is an inherited disorder of the kidneys. Affected dogs typically present with clinical signs of abnormal kidney function in adulthood with an average age of onset between 4 to 8 years of age. Normally the kidneys reabsorb most of the nutrients and electrolytes that they filter from the blood, however, the kidneys of the affected dogs cannot properly reabsorb nutrients and electrolytes, such as glucose, protein, phosphate, potassium and sodium, and therefore abnormally lose these nutrients in the urine. Symptoms of the abnormal kidney function in affected dogs most commonly includes increased urination and excessive drinking, and less often, dogs may have weight loss (despite a normal appetite), weakness, urinary incontinence and poor hair coat. A common characteristic of this disease is glucose in the urine even with normal blood glucose levels. Fanconi syndrome is treatable but not curable. If an affected dog is not treated, the disease can progress to chronic kidney failure and overall poor health, therefore appropriate treatment can preserve the health and quality of life of affected dogs. Median survival time after diagnosis is 5 years with most dogs dying around 12 years old. The late age of onset allows for most dogs to be bred before diagnosis and subsequently, the disease is passed to the offspring.

Category:

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

Gene:

FAN1

Variant Detected:

chr3:38013703-38014019 (canFam3): 317 bp deletion

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 Recessive

Recommended Screening:

Genetic testing of the FAN1 gene will reliably determine if a dog is a genetic carrier of Fanconi syndrome.

Research Citation(s):

Farias FHG. Molecular genetic studies of canine inherited diseases [dissertation]. 2011. Retrieved from MOspace. Johnson GS, Farias FH, Mhlanga-Mutangadura T, Taylor JF, O'Brien DP, Schnabel RD. Whole genome sequencing reveals a deletion of the last exon of FAN1 in Basenji dogs with adult-onset Fanconi syndrome [abstract]. Presented at the 63rd Annual Meeting of the American Society of Human Genetics in San Francisco, California; 2012 Nov 6-10. Noonan CH, Kay JM. Prevalence and geographic distribution of Fanconi syndrome in Basenjis in the United States. J Am Vet Med Assoc. 1990 Aug 1;197(3):345-9. [PubMed: 2391269] Yearley JH, Hancock DD, Mealey KL. Survival time, lifespan, and quality of life in dogs with idiopathic Fanconi syndrome. J Am Vet Med Assoc. 2004 Aug 1;225(3):377-83. [PubMed: 15328712]

Associated Breed(s):

Basenji,

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