Crystalline nephropathy due to adenine phosphoribosyl transferase deficiency as a cause of renal allograft dysfunction

    DOI Logo 10.17352/acn.000049

    Published On: January 18, 2021 | Pages: 001 - 005

    Author(s): Umapati Hegde*, Rajapurkar Mohan, Gang Sishir, Amit Jojera and Shailesh Soni
    APRT deficiency is a rare but under recognized genetic disease. Recurrent urolithiasis and DHA nephropathy are the two clinical manifestations of APRT deficiency and diagnosis can be made at any age and recurs after renal transplant. Allopurinol is the cornerstone in preventing recurrence. APRT activity assay and genetic testing are useful for confirmation of diag ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos
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