Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction.

Abstract

Adenine phosphoribosyltransferase deficiency is a rare autosomal recessive disorder manifesting as urolithiasis or crystalline nephropathy. It leads to the generation of large amounts of poorly soluble 2,8-dihydroxyadenine excreted in urine, yielding kidney injury and in some patients, kidney failure. Early recognition of the disease, institution of xanthine analog therapy to block the formation of 2,8-dihydroxyadenine, high fluid intake, and low purine diet prevent CKD. Because of symptom variability and lack of awareness, however, the diagnosis is sometimes extremely deferred. We describe a patient with adenine phosphoribosyltransferase deficiency who was diagnosed during evaluation of a poorly functioning second kidney allograft. This report highlights the risk of renal allograft loss in patients with undiagnosed adenine phosphoribosyltransferase deficiency and the need for improved early detection of this disease.

• Authors: Kati Kaartinen, Ulla Hemmilä, Kaija Salmela, Anne Räisänen-Sokolowski, Timo Kouri, Satu Mäkelä
• Journal: Journal of the American Society of Nephrology : JASN (J Am Soc Nephrol) Vol. 25 Issue 4 Pg. 671-4 (Apr 2014) ISSN: 1533-3450 [Electronic] United States
• PMID: 24459232 (Publication Type: Case Reports, Journal Article)

Chemical References

• 2,8-dihydroxyadenine
• Adenine Phosphoribosyltransferase
• Adenine

Topics

• Adenine (analogs & derivatives, metabolism)
• Adenine Phosphoribosyltransferase (deficiency)
• Allografts
• Humans
• Kidney Calculi (surgery)
• Kidney Transplantation (adverse effects)
• Male
• Metabolism, Inborn Errors (complications)
• Middle Aged
• Risk Factors
• Urolithiasis (complications)