Testing of dogs: Fanconi syndrome

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Fanconi syndrome

The Fanconi syndrome (FS) is a disease characterized by defects in epithelial transport of solutes in kidney proximal tubule. The impaired reabsorption of amino acids, glucose, sodium, calcium and phosphorus leads to acid-base balance disturbance and causes metabolic acidosis (hyperacidity), aminoaciduria (abnormal amount of amino acids in urine) and increased glucosuria  (elevated  glucose level in urine) and phosphaturia (increased excretion of phosphate in urin). The syndrome can be acquired or hereditary. The acquired form can be induced by toxins and drugs or poisoning with heavy metals such as lead, cadmium and uranium.

In Basenji dog breeds the Fanconi syndrome is inherited. It is associated with the deletion of the last exon in FAN1 gene. This disease affects the proximal renal tubule where defects in absorption of sodium, glucose, calcium and phosphorus and amino acids occur. The transport mechanism disorder leads to disturbance of the acid-base balance. The secondary cause of this can be toxins and drugs that affect the function of proximal renal tubule. The acquired form of the Fanconi syndrome can be caused by heavy metal poisoning (lead, mercury, cadmium and uranium). The main clinical symptoms include wasting away, worse hair quality and excessive thirst or excessive urination. If the disease is diagnosed and treated on time, the dog can live a normal life. The first clinical symptoms of the Fanconi syndrome can be usually seen between 4 and 7 years of age.  The affected dogs can live for approx. 11 years provided they are kept on correct diet.

Fanconi syndrome is inherited as an autosomal recessive trait. That means the disease affects dogs with P/P (positive / positive) genotype only. The dogs with P/N (positive /negative) genotype are clinically without any symptom. They are genetically considered carriers of the disease (heterozygotes). In offspring of two heterozygous animals following genotype distribution can be expected: 25 % N/N (healthy non-carriers), 25 % P/P (affected), and 50 % N/P (healthy carriers). Because of high risk of producing affected offspring, mating of two N/P animals (carriers) can not be recommended.

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Reference:

Fabiana H. G. Farias: MOLECULAR GENETIC STUDIES OF CANINE INHERITED DISEASES, University of Missouri, December 2011

M. NAČERADSKÁ: Fanconiho syndrom u basenji v ČR a SRN, Veterinářství 2009;59:7-11.

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Usual turnaround time: 7 business days
1 test price: 52.00 $ without VAT