2,8-Dihydroxyadenine Urolithiasis Type IA Overview
2,8-Dihydroxyadenine Urolithiasis Type IA
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Category: Urogenital (Associated with the Urinary and Genital Tracts)
Gene: Adenine phosphoribosyltransferase (APRT) on chromosome 5
Variant Detected: Base Substitution c.260G>A p.Arg87Gln
Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.
Mode of Inheritance: Autosomal Recessive
Test Overview: Adenine phosphoribosyltransferase (APRT) is an enzyme involved in the purine salvage pathway, where it catalyzes the conversion of adenine and 5-phosphoribosyl-1-pyrophosphate to adenosine monophosphate . In the absence of APRT, xanthine dehydrogenase (XDH) converts adenine into 2,8-dihydroxyadenine (2,8-DHA), a compound that is highly insoluble in urine. Acute kidney injury may occur from urinary tract obstruction by calculi, and chronic kidney disease is a common sequela caused by crystalline nephropathy. The age of onset varies, with many affected individuals remaining asymptomatic until adulthood.
Research Citation(s): Furrow et al. Mol Genet Metab, An APRT mutation is strongly associated with and likely causative for 2,8-dihydroxyadenine urolithiasis in dogs. (2014) 111;3, 399–403
Associated Breed(s): Native American Indian Dog, Mixed Breed,