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.
Chafekar, Nahush Omosule, Babaniji Aldujaili, Murad Kamalanathan, Manivarma
Chafekar, Nahush
Omosule, Babaniji
Aldujaili, Murad
Kamalanathan, Manivarma
Affiliation
Royal Wolverhampton Hospital NHS Trust; University Hospitals Birmingham NHS Foundation Trust
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Publication date
2025-12-10
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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.
Citation
Chafekar N, Omosule B, Aldujaili M, Kamalanathan M. 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. Cureus. 2025 Dec 10;17(12):e98883. doi: 10.7759/cureus.98883.
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Report