Rare Radiolucent Hydroxyadenine Renal Stones in 4 Years Old Boy
- *Corresponding Author:
- Dr. Almontaser Bella Hussein
Children Hospital, Assiut University
E-mail: [email protected]
Received date: September 30, 2015; Accepted date: October 28, 2015; Published date: November 04, 2015
Citation: Hussein AB, Elderwy A (2015) Rare Radiolucent Hydroxyadenine Renal Stones in 4 Years Old Boy. J Kidney 1:103. doi:10.4172/2472-1220.1000103
Copyright: © 2015 Hussein AB, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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 . Deposition of Dihydroxyadenine crystals in the renal tubules can lead to permanent renal damage with significant morbidity.