2.50
Hdl Handle:
http://hdl.handle.net/2336/2757
Title:
2,8-dihydroxyadeninuria: are there no cases in Scandinavia?
Authors:
Arnadottir, Margret; Laxdal, Throstur; Halldorsdottir, Bergljot
Citation:
Scand J Urol Nephrol 2005, 39(1):82-6
Issue Date:
1-Feb-2005
Abstract:
Homozygosity or mixed heterozygosity for mutations in the adenine phosphoribosyltransferase gene cause enzyme deficiency directing adenine through an alternative metabolic pathway. This results in the production of 2,8-dihydroxyadenine, which is actively secreted into the urine. 2,8-dihydroxyadenine is insoluble at physiological urinary pH but as marked supersaturation is possible the manifestations differ: there may be minimal consequences, there may be infiltration of the tubulointerstitial tissue with acute or chronic damage or there may be stone formation in the urinary tract. Effective treatment can be offered and therefore the prognosis depends upon the renal function at diagnosis. Treatment consists of adequate fluid intake, a low-purine diet and administration of allopurinol. Urinary 2,8-dihydroxyadenine crystals are easily recognized under a microscope. The diagnosis of 2,8-dihydroxyadeninuria can be confirmed by estimation of adenine phosphoribosyltransferase activity in erythrocyte lysates. More than 300 cases of 2,8-dihydroxyadeninuria have been diagnosed worldwide, most of them in Japan, France and Iceland. One case has been reported in Finland but there have been no reports from the Scandinavian peninsula or from Denmark. The relevant mutations may be very rare in these countries but underdiagnosis is also possible.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://dx.doi.org/10.1080/00365590510007621

Full metadata record

DC FieldValue Language
dc.contributor.authorArnadottir, Margret-
dc.contributor.authorLaxdal, Throstur-
dc.contributor.authorHalldorsdottir, Bergljot-
dc.date.accessioned2006-05-17T12:30:14Z-
dc.date.available2006-05-17T12:30:14Z-
dc.date.issued2005-02-01-
dc.identifier.citationScand J Urol Nephrol 2005, 39(1):82-6en
dc.identifier.issn0036-5599-
dc.identifier.pmid15764278-
dc.identifier.doi10.1080/00365590510007621-
dc.identifier.urihttp://hdl.handle.net/2336/2757-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractHomozygosity or mixed heterozygosity for mutations in the adenine phosphoribosyltransferase gene cause enzyme deficiency directing adenine through an alternative metabolic pathway. This results in the production of 2,8-dihydroxyadenine, which is actively secreted into the urine. 2,8-dihydroxyadenine is insoluble at physiological urinary pH but as marked supersaturation is possible the manifestations differ: there may be minimal consequences, there may be infiltration of the tubulointerstitial tissue with acute or chronic damage or there may be stone formation in the urinary tract. Effective treatment can be offered and therefore the prognosis depends upon the renal function at diagnosis. Treatment consists of adequate fluid intake, a low-purine diet and administration of allopurinol. Urinary 2,8-dihydroxyadenine crystals are easily recognized under a microscope. The diagnosis of 2,8-dihydroxyadeninuria can be confirmed by estimation of adenine phosphoribosyltransferase activity in erythrocyte lysates. More than 300 cases of 2,8-dihydroxyadeninuria have been diagnosed worldwide, most of them in Japan, France and Iceland. One case has been reported in Finland but there have been no reports from the Scandinavian peninsula or from Denmark. The relevant mutations may be very rare in these countries but underdiagnosis is also possible.en
dc.language.isoenen
dc.publisherTaylor & Francisen
dc.relation.urlhttp://dx.doi.org/10.1080/00365590510007621en
dc.subject.meshAdenineen
dc.subject.meshAdenine Phosphoribosyltransferaseen
dc.subject.meshHeterozygoteen
dc.subject.meshHomozygoteen
dc.subject.meshKidney Failureen
dc.subject.meshMutationen
dc.subject.meshScandinavia/epidemiologyen
dc.subject.meshUrinary Calculien
dc.subject.meshHumansen
dc.title2,8-dihydroxyadeninuria: are there no cases in Scandinavia?en
dc.typeArticleen
dc.identifier.journalScandinavian journal of urology and nephrologyen
dc.format.digYES-
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