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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.
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Specifiche
| Razza | |
|---|---|
| Gene | |
| Cromosoma | 28 |
| Mutation | c.260G>A |
| Tipo di Ereditarietà | Autosomico Recessivo |
| Organo | |
| Campione | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
Informazioni generali
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.
Caratteristiche cliniche
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.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 24359665
Year published: 2014
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