Spondylopatia ochronozowa u 5-letniego chłopca – opis przypadku
Journal Title: Reumatologia - Year 2006, Vol 44, Issue 1
Abstract
Alkaptonuria jest rzadkim schorzeniem, spowodowanym wrodzonym niedoborem oksydazy kwasu homogentyzynowego, dziedziczonym w sposób autosomalny recesywny. Gromadzenie się polimerów kwasu homogentyzynowego powoduje ciemnienie moczu i ochronozę. Przedstawiono 12-letnią obserwację choroby u obecnie 17-letniego chłopca z ochronozą, objawiającą się zwapnieniem krążków międzykręgowych kręgosłupa. Omówiono obraz kliniczny, możliwości diagnostyczne i leczenie alkaptonurii.
Authors and Affiliations
Lidia Rutkowska-Sak, Iwona Słowińska, Beata Kołodziejczyk
Keywords
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