Crystalline nephropathy due to 2,8-dihydroxyadeninuria: An under-recognized cause of irreversible renal failure

Samih H. Nasr, Sanjeev Sethi, Lynn D. Cornell, Dawn S. Milliner, Mark Boelkins, John Broviac, Mary E. Fidler

Research output: Contribution to journalArticlepeer-review

44 Scopus citations


Background. 2,8-dihydroxyadeninuria (DHA) disease (also called 2,8 dihydroxyadeninuria) is a rare autosomal recessive disorder caused by complete adenine phosphoribosyltransferase deficiency and typically manifests as recurrent nephrolithiasis. Only rare cases of DHA nephrolithiasis have been reported from the USA. Herein, we report three American patients who developed DHA crystalline nephropathy leading to end-stage renal disease (ESRD) with recurrence in the allograft.Methods. Three cases of DHA crystalline nephropathy were identified from the Renal Pathology Laboratory of Mayo Clinic. Detailed clinical and pathologic descriptions are provided.Results. All three patients were Caucasian adults with no history of obstructive nephropathy. Two patients had no history of nephrolithiasis and one had a single episode of stones 36 years prior to presentation. All patients presented with severe renal failure with a mean serum creatinine of 7.5 mg/dl. Renal biopsies revealed numerous tubular and interstitial brown DHA crystals, tubular degenerative changes and moderate to marked tubulointerstitial scarring. Two patients were initially misdiagnosed, one as primary hyperoxaluria and the other as chronic interstitial nephritis. All three patients progressed to ESRD, within 1 month following renal biopsy in two and after 9 months in one. All three patients underwent renal transplantation with early disease recurrence in three allografts in two patients.Conclusions. DHA disease is an under-recognized condition that can lead to irreversible renal failure and frequently recurs in the transplant. It should be included in the differential diagnosis of crystalline nephropathy, even in the absence of history of nephrolithiasis.

Original languageEnglish (US)
Pages (from-to)1909-1915
Number of pages7
JournalNephrology Dialysis Transplantation
Issue number6
StatePublished - Jun 2010


  • 2,8-dihydroxyadeninuria
  • Adenine phosphoribosyltransferase
  • Crystalline nephropathy
  • Disease recurrence
  • Renal failure

ASJC Scopus subject areas

  • Nephrology
  • Transplantation


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