2,8-Dihydroxyadeninuria-induced progressive renal failure
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چکیده
منابع مشابه
2,8-Dihydroxyadeninuria-induced progressive renal failure
Adenine phosphoribosyl-transferase (APRT) is the key enzyme that transforms adenine into adenylate monophosphate (AMP). In case of APRT deficiency, xanthine oxidase rapidly oxidizes adenine into 2,8-dihydroxyadenine (2,8-DHA), which is then eliminated by the kidneys through tubular secretion. 2,8-DHA is insoluble at a physiologic range of pH; therefore, it can easily precipitate in the urine. A...
متن کاملAcute renal failure in a middle-aged woman with 2,8-dihydroxyadeninuria.
Key words: adenine phosphoribosyltransferase defi-adequate explanation of her symptoms. On arrival, she was pale and dehydrated. The blood pressure was ciency; crystalluria; 2,8-dihydroxyadeninuria; renal failure 120/60 in the supine position but fell to 100/60 on standing. Physical examination was otherwise unremarkable. Laboratory data included haemo-globin 96 g/l, mean corposcular volume 88,...
متن کاملCrystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure.
BACKGROUND 2,8-dihydroxyadeninuria (DHA) disease (also called 2,8 dihydroxyadeninuria) is a rare autosomal recessive disorder caused by complete adenine phosphoribosyltransferase deficiency and typically manifests as recurrent nephrolithiasis. Only rare cases of DHA nephrolithiasis have been reported from the USA. Herein, we report three American patients who developed DHA crystalline nephropat...
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Rapidly progressive renal failure (RPRF) is an initial clinical diagnosis in patients who present with progressive renal impairment of short duration. The underlying etiology may be a primary renal disease or a systemic disorder. Important differential diagnoses include vasculitis (systemic or renal-limited), systemic lupus erythematosus, multiple myeloma, thrombotic microangiopathy and acute i...
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ژورنال
عنوان ژورنال: Clinical Kidney Journal
سال: 2008
ISSN: 2048-8505,2048-8513
DOI: 10.1093/ndtplus/sfn110