Kidney Disease in 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: a new genetic mutation with early recurrent renal stone disease in kidney transplantation
Adenine phosphoribosyltransferase (APRT) deficiency, a rare inborn error inherited as an autosomic recessive trait, presents with 2,8-dihydroxyadenine (2,8-DHA) crystal nephropathy. We describe clinical, biochemical and molecular findings in a renal transplant recipient with renal failure, 2,8-DHA stones and no measurable erythrocyte APRT activity. Homozygous C > G substitution at -3 in the spl...
متن کاملAdenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man.
A deficiency of adenine phosphoribosyltransferase (A-PRTase) is described in four members in three generations of one family. A-PRTase is coded by an autosome and the mutants described in this report are heterozygotes for this enzyme defect. The level of enzyme activity in these heterozygotes was inappropriately low, ranging from 21 to 37% of normal rather than the expected 50% of normal. Exami...
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...
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ژورنال
عنوان ژورنال: American Journal of Kidney Diseases
سال: 2016
ISSN: 0272-6386
DOI: 10.1053/j.ajkd.2015.10.023