2,8- díhýdroxýadenínúría

• Main Author: Þröstur Laxdal
• Format: Article in Journal/Newspaper
• Language: Icelandic
• Published: Læknafélag Íslands, Læknafélag Reykjavíkur 2009
• Subjects: Kristallar; Þvagrannsóknir; Urinary Calculi; Mutation; Smella; Iceland
• Online Access: http://hdl.handle.net/2336/75498

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/Open 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 ...