Alkaptonüri hastalarının Klinik İzlemi ve Genotip-Fenotip İlişkisi

Abstract

Hospital files of alkaptonuria patients being followed up in Nutrition and Metabolism Unit of Hacettepe University İhsan Doğramacı Child Health and İllness Hospital reviewed retrospectively. Their median diagnosis age was nine and in childhood age group the most common complaint was darkening of urine and in adolescence and adulthood main complaint was joint problems. None of the patients had cardiac problem. Three patients had either cyristaluria or renal stone. Ten mutation have been described and two of them were novel: Gly251Asp, Val316Ile. The most common mutations were S59fs, R58fs and most probably the origin of these mutations were Middle Asia. The other described mutations were G161R ve N219S, H371fs, R330S, A218fs ve P274L mutations. In pediatric age group ascorbic aicd treatment was the main treatment and nitisinone treatment wasn't used. Two patients were operated due to ochronotic artropathy. The only adult patient, that has developped degenerative artritis, has been treated with non-steroid anti-inflamatory drugs and immune supressives. Patients with renal stone were applied neither medical nor surgical treatment. In this studygroup genotype-phenotype correlation was not significiant.