The incidence of nephrolithiasis in children ranges from 5 to 10% in developing countries. Etiology of nephrolithiasis in children remains largely unknown, so metabolic evaluation is indicated in all case, because of potential morbidity and recurrence. We report a case of 2,8-Dihydroxyadenine nephrolithiasis present as bilateral staghorn stone in 11 years old boy with chronic kidney disease. 2,8-Dihydroxyadenine nephrolithiasis is the result of a metabolic abnormality due to the deficiency of the enzyme adenine phosphoribosyltransferase (APRT), it is not only promote stone formation, but also induced nephropathy. Early diagnosis ensure appropriate treatment and favorable prognosis for kidney function and stone management.
Keywords: 2,8- dihydroxyadenine nephrolithiasis; APRT deficiency; Nephropathy.
© 2023 The Authors.