ArticleCureus2025
When the Stones Keep Hitting, Leave No Stone Unturned: A Report of Two Cases of Adenine Phosphoribosyltransferase (APRT) Deficiency Progressing to End-Stage Renal Failure and Recurrence Post-transplant in One of Them.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder of the purine pathway that results in excessive production of 2,8-dihydroxyadenine and subsequent nephrolithiasis and crystal nephropathy. It has varying presentations, and this, in combination with its rarity, often leads to delayed diagnosis. It is also associated with recurrence in the allograft post transplant with potential for graft loss, especially if the diagnosis was not made. We present two cases of APRT deficiency in two men with varying presentations and progression to end-stage renal failure. There was a recurrence post renal transplant in one of them who had delayed graft function, and the diagnosis was made at this point. Early diagnosis and prompt initiation of therapy are critical in preventing the progression of disease.
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