Adenine Phosphoribosyltransferase Deficiency
نویسندگان
چکیده
منابع مشابه
Adenine phosphoribosyltransferase deficiency
Key-words Disease name and synonyms Definition Excluded diseases Diagnosis criteria Differential diagnosis Prevalence Molecular defect Clinical description Management including treatment Etiology Diagnostic methods Antenatal diagnosis Unresolved questions References Abstract Adenine phosphoribosyltransferase (APRT) catalyzes the synthesis of AMP (adenosine monophosphate) from adenine and 5'-pho...
متن کاملAdenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation
BACKGROUND Adenine phosphoribosyltransferase deficiency (APRTD) is an under estimated genetic form of kidney stones and/or kidney failure, characterized by intratubular precipitation of 2,8-dihydroxyadenine crystals (2,8-DHA). Currently, five pathologic allelic variants have been identified as responsible of the complete inactivation of APRT protein. CASE PRESENTATION In this study, we report...
متن کاملAdenine Phosphoribosyltransferase Deficiency: A Rare Cause of Recurrent Urolithiasis
Background: Recurrent urolithiasis is troublesome for both patient and clinician, and in most cases, an underlying cause is not found. An important and underdiagnosed cause is adenine phosphoribosyltransferase (APRT) deficiency that gives rise to 2,8-dihydroxyadenine (2,8-DHA) stones. If diagnosed early, patient morbidity as well as the financial cost of treating stone recurrence can be avoided...
متن کاملDihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive error of purine metabolism resulting in the generation of 2,8-dihydroxyadenine (DHA), a highly insoluble metabolite of adenine, which can cause radiolucent urolithiasis. This is the second case of DHA stone being reported in India and the first case in India to document the mutation of the APRT gene on blood DNA a...
متن کاملPhenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder causing 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. Little is known regarding the clinical presentation of APRT deficiency, especially in the white population. We retrospectively reviewed all 53 cases of APRT deficiency (from 43 families) identified a...
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ژورنال
عنوان ژورنال: Clinical Journal of the American Society of Nephrology
سال: 2012
ISSN: 1555-9041,1555-905X
DOI: 10.2215/cjn.02320312