2.50
Hdl Handle:
http://hdl.handle.net/2336/75498
Title:
2,8- díhýdroxýadenínúría
Authors:
Þröstur Laxdal
Citation:
Læknablaðið 1994, 80(4):141-8
Issue Date:
1-Apr-1994
Abstract:
Since 1983, total of 12 patients with 2,8-dihydroxyadeninuria have been detected in Iceland. This makes the prevalence of this autosomal recessively inherited disturbance in purine metabolism considerably higher in this country than elsewhere recorded, or 1: 22.000. There were 7 males and 5 females equally divided between children and adults, the age ranging from 6 months to 46 years. Most of the adults had many years' history of renal colic and stones before diagnosis. None of the 6 children had yet suffered urolithiasis at the time of diagnosis, but 2 had history of intermittent red-brownish spots in their diapers. All of the 12 patients were originally detected by the appearance of characteristic brownish, round crystals on regular light microscopy of their urine. Diagnosis was confirmed by UV and IR spectrophotometry of urine crystals and finally by enzyme analysis in their lyzed red blood cells. All of the patients showed red-brown sediment after urine centrifugation, which therefore might be used as an additional clue to diagnosis, along with the unique 2,8-dihydroxyadenine crystals, even in the absence of symptoms. Three of the asymptomatic children were coincidentally detected by routine urine microscopy, the first ones so reported in the literature. Unexpectedly high proportion, or 9 of the 12 patients, had red hair (vs 4-5% in the general Icelandic population). Identical missense mutation of the APRT gene was found in all the Icelandic patients, suggesting a founder effect. Five of the patients were distantly related through 5th to 7th generations and other three shared common great grandparents and great-great grandparents. All the patients were prescribed on allopurinol along with limitation of purine intake, whether asymptomatic or not. None has had further symptoms while abiding by recommended treatment. The keyrole of competent urine microscopists in the primary detection of this potentially lethal disease is underscored.; 2,8-díhýdroxýadenínúría (DHA) er talin fremur sjaldgæf orsök þvagfærakristalla/steina. Á síðasta áratug hafa fundist 12 einstaklingar með þennan arfgenga efnaskiptagalla á Íslandi. Algengi sjúkdómsins hér á landi virðist því töluvert hærra en vitað er um annars staðar eða kringum 1:22.000. Íslensku sjúklingarnir voru á aldrinum sex mánaða til 46 ára þar af helmingur á barnsaldri við greiningu. Ekkert barnanna hafði með vissu fengið steinaköst fyrir greiningu öfugt við flestalla hinna fullorðnu. Þrjú barnanna uppgötvuðust fyrir tilviljun í sambandi við venjulega smásjárskoðun á þvagi. Frumgreining allra 12 sjúklinganna var raunar gerð fyrir tilstuðlan einkennandi brúnleitra hnattkristalla sem sáust við smásæja þvagskoðun. Greining var síðan staðfest með útfjólublárri og innrauðri litrófsmælingu (spectrophotometry) á þvagkristöllum og endanlega staðfest með hvatamælingum í rauðum blóðkornum sjúklinganna. Rauðbrúnt botnfall við þvagskiljun svo og brúnleitir blettir í bleyjum barna reyndust viðbótarábending um 2,8-díhýdroxýadenínkristalla, jafnvel áður en þvagfæraeinkenni höfðu gert vart við sig. Níu af 12 sjúklingum reyndust rauðhærðir og allir áttu nána, rauðhærða ættingja. Þýðing þessa er óljós. Samsvarandi mislestursbreyting (missense mutation) í APRT geni allra íslensku sjúklinganna bendir á sameiginlega forforeldra. Hægt var að rekja ættir fimm sjúklinganna til sameiginlegra forfeðra 200 ár aftur í tímann og aðrir þrír reyndust skyldir í þriðja og fjórða lið. Allir sjúklingarnir voru settir á fyrirbyggjandi lyfjameðferð. Ekki er vitað um frekari nýrnasteinamyndanir hjá þeim sem fylgt hafa fyrirmælum um meðferð.
Description:
Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/Open
Additional Links:
http://www.laeknabladid.is

Full metadata record

DC FieldValue Language
dc.contributor.authorÞröstur Laxdal-
dc.date.accessioned2009-07-24T11:44:44Z-
dc.date.available2009-07-24T11:44:44Z-
dc.date.issued1994-04-01-
dc.date.submitted2009-07-23-
dc.identifier.citationLæknablaðið 1994, 80(4):141-8en
dc.identifier.issn0023-7213-
dc.identifier.urihttp://hdl.handle.net/2336/75498-
dc.descriptionNeðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/Openen
dc.description.abstractSince 1983, total of 12 patients with 2,8-dihydroxyadeninuria have been detected in Iceland. This makes the prevalence of this autosomal recessively inherited disturbance in purine metabolism considerably higher in this country than elsewhere recorded, or 1: 22.000. There were 7 males and 5 females equally divided between children and adults, the age ranging from 6 months to 46 years. Most of the adults had many years' history of renal colic and stones before diagnosis. None of the 6 children had yet suffered urolithiasis at the time of diagnosis, but 2 had history of intermittent red-brownish spots in their diapers. All of the 12 patients were originally detected by the appearance of characteristic brownish, round crystals on regular light microscopy of their urine. Diagnosis was confirmed by UV and IR spectrophotometry of urine crystals and finally by enzyme analysis in their lyzed red blood cells. All of the patients showed red-brown sediment after urine centrifugation, which therefore might be used as an additional clue to diagnosis, along with the unique 2,8-dihydroxyadenine crystals, even in the absence of symptoms. Three of the asymptomatic children were coincidentally detected by routine urine microscopy, the first ones so reported in the literature. Unexpectedly high proportion, or 9 of the 12 patients, had red hair (vs 4-5% in the general Icelandic population). Identical missense mutation of the APRT gene was found in all the Icelandic patients, suggesting a founder effect. Five of the patients were distantly related through 5th to 7th generations and other three shared common great grandparents and great-great grandparents. All the patients were prescribed on allopurinol along with limitation of purine intake, whether asymptomatic or not. None has had further symptoms while abiding by recommended treatment. The keyrole of competent urine microscopists in the primary detection of this potentially lethal disease is underscored.en
dc.description.abstract2,8-díhýdroxýadenínúría (DHA) er talin fremur sjaldgæf orsök þvagfærakristalla/steina. Á síðasta áratug hafa fundist 12 einstaklingar með þennan arfgenga efnaskiptagalla á Íslandi. Algengi sjúkdómsins hér á landi virðist því töluvert hærra en vitað er um annars staðar eða kringum 1:22.000. Íslensku sjúklingarnir voru á aldrinum sex mánaða til 46 ára þar af helmingur á barnsaldri við greiningu. Ekkert barnanna hafði með vissu fengið steinaköst fyrir greiningu öfugt við flestalla hinna fullorðnu. Þrjú barnanna uppgötvuðust fyrir tilviljun í sambandi við venjulega smásjárskoðun á þvagi. Frumgreining allra 12 sjúklinganna var raunar gerð fyrir tilstuðlan einkennandi brúnleitra hnattkristalla sem sáust við smásæja þvagskoðun. Greining var síðan staðfest með útfjólublárri og innrauðri litrófsmælingu (spectrophotometry) á þvagkristöllum og endanlega staðfest með hvatamælingum í rauðum blóðkornum sjúklinganna. Rauðbrúnt botnfall við þvagskiljun svo og brúnleitir blettir í bleyjum barna reyndust viðbótarábending um 2,8-díhýdroxýadenínkristalla, jafnvel áður en þvagfæraeinkenni höfðu gert vart við sig. Níu af 12 sjúklingum reyndust rauðhærðir og allir áttu nána, rauðhærða ættingja. Þýðing þessa er óljós. Samsvarandi mislestursbreyting (missense mutation) í APRT geni allra íslensku sjúklinganna bendir á sameiginlega forforeldra. Hægt var að rekja ættir fimm sjúklinganna til sameiginlegra forfeðra 200 ár aftur í tímann og aðrir þrír reyndust skyldir í þriðja og fjórða lið. Allir sjúklingarnir voru settir á fyrirbyggjandi lyfjameðferð. Ekki er vitað um frekari nýrnasteinamyndanir hjá þeim sem fylgt hafa fyrirmælum um meðferð.en
dc.language.isoisen
dc.publisherLæknafélag Íslands, Læknafélag Reykjavíkuren
dc.relation.urlhttp://www.laeknabladid.isen
dc.subjectKristallaren
dc.subjectÞvagrannsókniren
dc.subject.meshUrinary Calculien
dc.subject.meshMutationen
dc.title2,8- díhýdroxýadenínúríais
dc.typeArticleen
dc.identifier.journalLæknablaðiðen
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