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Kidney Week

Abstract: TH-PO1118

A Rare Cause of Acute Renal Failure: Biopsy-Proven 2,8-Dihydroxyadenine Crystalline Nephropathy in a Patient Without Previous Nephrolithiasis

Session Information

Category: Pathology and Lab Medicine

  • 1700 Pathology and Lab Medicine

Authors

  • Bitar, Mustapha K., The University of Kansas School of Medicine, Wichita, Kansas, United States
  • Short, Levi, The University of Kansas School of Medicine, Wichita, Kansas, United States
Introduction

2,8-dihydroxyadenine (DHA) crystalline nephropathy from APRT deficiency is a rare, treatable cause of kidney failure that is often missed, particularly when nephrolithiasis is absent. This case is about a patient with no prior history of kidney disease or nephrolithiasis who presented to the clinic after being hospitalized for acute renal failure and was found to have DHA crystalline nephropathy.

Case Description

A 49-year-old woman presented with acute renal failure requiring dialysis; serum creatinine was 6.91 mg/dL. Urinalysis showed trace blood with minimal proteinuria, and serologic workup was negative. She had no known history of nephrolithiasis or kidney disease. Kidney biopsy showed approximately 50% interstitial fibrosis, 25% global glomerulosclerosis, and numerous crystals in tubular lumina, tubular epithelial cytoplasm, and interstitium. The crystals were brown-green on routine stains, birefringent on polarized light, and showed rod, needle, rhomboid, and irregular forms with focal giant-cell reaction. The findings were most consistent with DHA crystalline nephropathy.

Discussion

This case is unique because DHA nephropathy presented as acute renal failure requiring dialysis in a middle-aged woman without prior nephrolithiasis or family history of kidney disease, a pattern that can delay diagnosis and allow irreversible tubulointerstitial scarring. The key outcome was establishment of a biopsy-proven diagnosis, enabling targeted evaluation for APRT deficiency and disease-specific therapy with xanthine oxidase inhibition. Teaching points: consider DHA nephropathy in unexplained AKI or crystalline nephropathy even without stones; biopsy crystal color and polarizability help distinguish it from oxalate and other crystal diseases; early recognition matters because this disorder is treatable and can recur in kidney allografts if missed.