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Updated: Jan 3, 2026

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Published on: April 28, 2013
Rare crystalline nephropathy leading to acute graft dysfunction: a case report
Sahil Bagai1, Dinesh Khullar2, Bhavna Bansal3
1Department of Nephrology and Renal transplant medicine, Max Superspeciality Hospital, 1 & 2, Press Enclave Marg Saket, New Delhi, Delhi, 110017, India.
Background:
Adenine phosphoribosyl transferase (APRT) deficiency is a rare genetic form of kidney stones and/or kidney failure characterized by intratubular precipitation of 2,8 dihydroxyadenine crystals. Early diagnosis and prompt management can completely reverse the kidney injury.
Case Presentation:
44 year old Indian male, renal transplant recipient got admitted with acute graft dysfunction. Graft biopsy showed light brown refractile intratubular crystals with surrounding giant cell reaction, consistent with APRT deficiency. Patient improved after receiving allopurinol and hydration.
Conclusion:
APRT forms a reversible cause of crystalline nephropathy. High index of suspicion is required for the correct diagnosis as timely diagnosis has therapeutic implications.
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