Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland

2.50
Hdl Handle:
http://hdl.handle.net/2336/32973
Title:
Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland
Authors:
Edvardsson, V O; Palsson, R; Olafsson, I; Hjaltadottir, G; Laxdal, T
Citation:
Am. J. Kidney Dis. 2001, 38(3):473-80
Issue Date:
1-Sep-2001
Abstract:
The purpose of this study was to characterize the clinical, diagnostic, and prognostic features of adenine phosphoribosyltransferase (APRT) deficiency in Icelandic patients, as well as determine their genotype. Medical records of all known patients in Iceland were reviewed. Urinalysis and polymerase chain reaction-based DNA mutation analysis were performed in all patients, siblings, and living parents of index cases. Twenty-three individuals homozygous for type I APRT deficiency were identified in 16 families from 1983 to 1998. There were 12 males and 11 females, and the median age at diagnosis was 37 years (range, 0.5 to 62 years). Seventeen patients were index cases and 6 patients were diagnosed during screening of first-degree relatives. Eighteen patients had symptomatic disease, 15 of whom experienced nephrolithiasis; 4 patients had mild to moderate renal insufficiency, 1 patient had advanced renal failure, and 1 patient died of uremic complications. Six patients experienced recurrent urinary tract infections and 3 infants had a history of reddish-brown diaper stains. Five patients were asymptomatic; 3 of these patients were diagnosed during routine urinalysis and 2 patients were identified during family screening. Urinary 2,8-dihydroxyadenine crystals were detected in all cases, except for the patient who died of end-stage renal failure. All 23 patients were homozygous for the same mutation (D65V) in the APRT gene. Allopurinol therapy successfully prevented further stone formation and significantly improved renal function in most patients with renal insufficiency. Our results suggest that APRT deficiency may be more common than previously recognized and can lead to severe renal failure if left untreated.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://www.sciencedirect.com/science/article/B6W9N-45V1YW4-2H/1/79339f333f8bcb3ee3e9f6314d5b73ca

Full metadata record

DC FieldValue Language
dc.contributor.authorEdvardsson, V O-
dc.contributor.authorPalsson, R-
dc.contributor.authorOlafsson, I-
dc.contributor.authorHjaltadottir, G-
dc.contributor.authorLaxdal, T-
dc.date.accessioned2008-07-24T09:48:53Z-
dc.date.available2008-07-24T09:48:53Z-
dc.date.issued2001-09-01-
dc.date.submitted2008-07-24-
dc.identifier.citationAm. J. Kidney Dis. 2001, 38(3):473-80en
dc.identifier.issn1523-6838-
dc.identifier.pmid11532677-
dc.identifier.doi10.1053/ajkd.2001.26826-
dc.identifier.urihttp://hdl.handle.net/2336/32973-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractThe purpose of this study was to characterize the clinical, diagnostic, and prognostic features of adenine phosphoribosyltransferase (APRT) deficiency in Icelandic patients, as well as determine their genotype. Medical records of all known patients in Iceland were reviewed. Urinalysis and polymerase chain reaction-based DNA mutation analysis were performed in all patients, siblings, and living parents of index cases. Twenty-three individuals homozygous for type I APRT deficiency were identified in 16 families from 1983 to 1998. There were 12 males and 11 females, and the median age at diagnosis was 37 years (range, 0.5 to 62 years). Seventeen patients were index cases and 6 patients were diagnosed during screening of first-degree relatives. Eighteen patients had symptomatic disease, 15 of whom experienced nephrolithiasis; 4 patients had mild to moderate renal insufficiency, 1 patient had advanced renal failure, and 1 patient died of uremic complications. Six patients experienced recurrent urinary tract infections and 3 infants had a history of reddish-brown diaper stains. Five patients were asymptomatic; 3 of these patients were diagnosed during routine urinalysis and 2 patients were identified during family screening. Urinary 2,8-dihydroxyadenine crystals were detected in all cases, except for the patient who died of end-stage renal failure. All 23 patients were homozygous for the same mutation (D65V) in the APRT gene. Allopurinol therapy successfully prevented further stone formation and significantly improved renal function in most patients with renal insufficiency. Our results suggest that APRT deficiency may be more common than previously recognized and can lead to severe renal failure if left untreated.en
dc.language.isoenen
dc.publisherW.B. Saundersen
dc.relation.urlhttp://www.sciencedirect.com/science/article/B6W9N-45V1YW4-2H/1/79339f333f8bcb3ee3e9f6314d5b73caen
dc.subject.meshAdenineen
dc.subject.meshAdenine Phosphoribosyltransferaseen
dc.subject.meshAdolescenten
dc.subject.meshAdulten
dc.subject.meshBiopsyen
dc.subject.meshChilden
dc.subject.meshChild, Preschoolen
dc.subject.meshDNA Mutational Analysisen
dc.subject.meshFemaleen
dc.subject.meshGenotypeen
dc.subject.meshHumansen
dc.subject.meshIcelanden
dc.subject.meshInfanten
dc.subject.meshKidneyen
dc.subject.meshKidney Calculien
dc.subject.meshKidney Failure, Acuteen
dc.subject.meshKidney Failure, Chronicen
dc.subject.meshMaleen
dc.subject.meshMiddle Ageden
dc.titleClinical features and genotype of adenine phosphoribosyltransferase deficiency in icelanden
dc.typeArticleen
dc.contributor.departmentDepartment of Pediatrics, Landspitali-University Hospital, Reykjavik, Iceland. vidare@landspitali.isen
dc.identifier.journalAmerican journal of kidney diseases : the official journal of the National Kidney Foundationen

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