Dog hereditary diseases

Description
Hyperuricosuria (HUU) is an inherited disease characterized by the accumulation of uric acid salts and the formation of stones.

Normally, in mammals, allantoin acts as the main end product of purine metabolism in the liver. The exceptions are humans, primates and Dalmatian dogs, in which uric acid is excreted instead of allantoin. This leads to high levels of uric acid in the blood and urine, and the person is at risk of diseases such as kidney stones and gout, which can lead to hypertension.

Hyperuricosuria in Dalmatians has been studied since 1916, but for a long time the genetic cause of this disorder remained unknown. The problem was solved only in 2008, when scientists identified the HUU mutation - a single nucleotide substitution c.G563T (p.C188F) in the SLC2A9 gene.

Autosomal recessive inheritance has been described for HUU. This means that the disease will only develop in dogs that have inherited mutations from both parents (both alleles of the SLC2A9 gene are mutated). This condition is called homozygous for HUU.

All Dalmatians suffer from HUU and are homozygous for the HUU mutation. A more detailed study of the HUU showed that the disease can occur in dogs of a wide variety of breeds. This fact testifies to the antiquity of the HUU mutation, which probably arose at the early stages of selection. It is assumed that the fixation of the HUU mutation in Dalmatians is associated with selection by color, namely, by the shape of the spots that characterize the breed.

HUU is especially common in breeds such as the Bulldog, Black Russian Terrier, American Staffordshire Terrier, German Shepherd, Retrievers, Great Munsterlander.

Symptoms

Diagnostics
Characteristic changes in the behavior and physiology of the dog.