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Twitter Poll
Twitter Poll (May 13, 2021)
Answer: A, 2,8-Dihydroxyadeninuria 2,8-dihydroxyadeninuria (2,8-DHA) is caused by an autosomal recessive deficiency in the adenine phosphoribosyltransferase (APRT). The gene is located…
Twitter Poll
Twitter Poll (February 5, 2020)
ANSWER: D, All of the Above2,8-dihydroxyadeninuria (DHA) disease is a rare autosomal recessive disorder caused by complete adenine phosphoribosyltransferase (APRT)…
Teaching Points
2,8 DHA Crystalline Nephropathy
The renal biopsy shown here has crystals present within the tubular lumens and cytoplasm with a brownish appearance by H&E…
Teaching Points
2,8-Dihydroxyadenuria
Adenine phosphoribosyltransferase (APRT) deficiency results from an autosomal recessive enzyme defect of purine metabolism and leads to 2,8-dihydroxyadenine (2,8-DHA) crystalline…