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2,8-Dihydroxyadenine (2,8-DHA) urolithiasis is a genetic disorder caused by mutations in the Adenine Phosphoribosyltransferase (APRT) gene, resulting in a defect in purine metabolism.
10 días laborables
Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 28 |
| Mutation | c.260G>A |
| Mode of Inheritance | Autosómico recesivo |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
Información específica de la prueba
2,8-Dihydroxyadenine (2,8-DHA) urolithiasis is a genetic disorder caused by mutations in the Adenine Phosphoribosyltransferase (APRT) gene, resulting in a defect in purine metabolism. This leads to the accumulation of 2,8-dihydroxyadenine, a poorly soluble compound that precipitates in the urine. The condition is inherited in an autosomal recessive manner and can affect various dog breeds.
Características clínicas
Affected dogs develop crystals and stones in the urinary tract, including the kidneys, ureters, bladder, and urethra. Clinical signs may include frequent or painful urination, straining to urinate, blood in the urine (hematuria), and recurrent urinary tract irritation or infection. In more severe cases, urinary obstruction can occur, which is a medical emergency. Progressive accumulation of crystals may also lead to kidney damage, reduced kidney function, or renal failure. Signs can vary in age of onset and severity, and may include lethargy, decreased appetite, vomiting, and abdominal discomfort.
Información adicional
Referencias
Pubmed ID: 24359665
Year published: 2014
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