Ahmad Elderwy
Egypt
Case Report
Rare Radiolucent Hydroxyadenine Renal Stones in 4 Years Old Boy
Author(s): Almontaser Bella Hussein and Ahmad ElderwyAlmontaser Bella Hussein and Ahmad Elderwy
Adenine phosphoribosyltransferase (APRT) deficiency is a rare under-recognized disorder of adenine metabolism. It has a familial tendency and is inherited as autosomal recessive. APRT deficiency eventually leads to increased production of 2,8-dihydroxyadenine (DHA) which has a low solubility at normal range of urine PH resulting in the formation of DHA crystals and recurrent kidney stones as the main presenting feature [1]. Deposition of Dihydroxyadenine crystals in the renal tubules can lead to permanent renal damage with significant morbidity. .. View More»
