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Adenine phosphoribosyltransferase deficiency and 2, 8- dihydroxyadenine renal stones : a preventable cause of pediatric renal stones and kidney disease
Joint Authors
Gang, Sishir
Konnur, Abhijit
Parikh, Mital Dipakkkumar
Source
Saudi Journal of Kidney Diseases and Transplantation
Issue
Vol. 30, Issue 3 (30 Jun. 2019), pp.723-725, 3 p.
Publisher
Saudi Center for Organ Transplantation
Publication Date
2019-06-30
Country of Publication
Saudi Arabia
No. of Pages
3
Main Subjects
Topics
Abstract EN
Adenine phosphoribosyltransferase deficiency is an inherited condition presenting from infancy to late adulthood.
The common features are recurrent kidney and urinary tract stones and obstructive symptoms.
The stones are characteristically radiolucent.
2, 8-Dihydroxyadenine (2, 8-DHA) formation is blocked by xanthine oxidase blocker allopurinol.
Here, we report the case of an eight-month-old baby girl who presented with obstructive acute kidney injury secondary to calculi which was treated with surgical removal of stone.
The analysis of the calculi revealed 2, 8-DHA crystals.
American Psychological Association (APA)
Parikh, Mital Dipakkkumar& Konnur, Abhijit& Gang, Sishir. 2019. Adenine phosphoribosyltransferase deficiency and 2, 8- dihydroxyadenine renal stones : a preventable cause of pediatric renal stones and kidney disease. Saudi Journal of Kidney Diseases and Transplantation،Vol. 30, no. 3, pp.723-725.
https://search.emarefa.net/detail/BIM-894170
Modern Language Association (MLA)
Parikh, Mital Dipakkkumar…[et al.]. Adenine phosphoribosyltransferase deficiency and 2, 8- dihydroxyadenine renal stones : a preventable cause of pediatric renal stones and kidney disease. Saudi Journal of Kidney Diseases and Transplantation Vol. 30, no. 3 (May. / Jun. 2019), pp.723-725.
https://search.emarefa.net/detail/BIM-894170
American Medical Association (AMA)
Parikh, Mital Dipakkkumar& Konnur, Abhijit& Gang, Sishir. Adenine phosphoribosyltransferase deficiency and 2, 8- dihydroxyadenine renal stones : a preventable cause of pediatric renal stones and kidney disease. Saudi Journal of Kidney Diseases and Transplantation. 2019. Vol. 30, no. 3, pp.723-725.
https://search.emarefa.net/detail/BIM-894170
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 725
Record ID
BIM-894170