Acute renal failure in a middle-aged woman with 2,8-dihydroxyadeninuria.
نویسندگان
چکیده
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 88,6 fl, white
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...
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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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ورودعنوان ژورنال:
- Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
دوره 12 9 شماره
صفحات -
تاریخ انتشار 1997