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Diagnose This (December 14, 2020)

light chain proximal tubulopathy, diagnose this, Dr. Joel Murphy, renal pathology, arkana laboratories
What is the most likely diagnosis in a patient with an abnormal serum protein electrophoresis?       ​ ​   ​   ​ ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​ ​   ​ ​   ​ ​...

Twitter Poll (February 5, 2020)

Adenine phosphoribosyltransferase (APRT), Twitter Poll, Arkana Laboratories
ANSWER: D 2,8-dihydroxyadeninuria (DHA) disease is a rare autosomal recessive disorder caused by complete adenine phosphoribosyltransferase (APRT) deficiency and manifests as recurrent nephrolithiasis. 2,8-DHA can lead to irreversible renal failure and frequently recurs in the transplants. Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive inherited disorder of purine metabolism. APRT catalyzes the formation of adenosine monophosphate from adenine. In the absence of APRT activity, adenine is catabolized by xanthine oxidase to 2,8-dihydroxyadenine (DHA), which is excreted in the urine. DHA is insoluble in the urine at the physiological range of pH, which may lead to crystalluria. The disease is...