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2,8-Dihydroxyadenine Urolithiasis Type IA
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 [1]. 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.
Category:
Urinary system / Urologic - Associated with the kidneys, bladder, ureters and urethra
Gene:
Adenine phosphoribosyltransferase (APRT) on chromosome 5
Variant Detected:
Base Substitution c.260G>A p.Arg87Gln
Severity:
Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
Mode of Inheritance:
Autosomal Recessive
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):
Mixed Breed, Native American Indian Dog,
