ALKAPTONURIJA – PRIKAZ BOLESNICE

Ana Parlov, Marin Petrić, Dijana Perković, Dušanka Martinović Kaliterna

63-godišnja bolesnica, koja se više godina obrađuje zbog sumnje na upalnu reumatsku bolest (seronegativni reumatoidni artritis, spondiloartropatija), hospitalizirana je zbog progresije boli u kukovima, koljenima i malim zglobovima šaka. Nekoliko godina prije hospitalizacije primijetila je plavilo uški i vrška nosa te tamnjenje urina ako stoji na zraku. Navedeni simptomi uklapaju se u kliničku sliku nasljedne metaboličke bolesti alkaptonurije, koja se uz artropatiju manifestirala i ohronozom (plavičasto-crna pigmentacija ležišta nokta, bjeloočnice, hrskavice nosa, uha i zglobova). Sumnja na alkaptonuriju potvrđena je analizom urina u kojem su utvrđene povišene vrijednosti homogentizinske kiseline. Svrha je ovog članka upozoriti na rijetku bolest koja oponaša upalne reumatske bolesti te degenerativne promjene na zglobovima i kralježnici, a za koju trenutačno nema specifičnog lijeka.

A 63-year-old patient, who was for a long time suspicious of inflammatory rheumatic disease (seronegative rheumatoid arthritis, spondyloarthropathies), was hospitalized due to progression of pain in the hips, knees and small joints of the hand. A few years ago she noticed that her ears and tip of the nose were flooded and urine was tarnishing in air. These symptoms fit the clinical presentation of an inherited metabolic disease alkaptonuria. Our patient manifested with arthropathy and also with the ochronosis (bluish black pigmentation of nails, scleras, cartilages, joints). The suspicion of alkaptonuria was confirmed by the analysis of urine in which elevated levels of the homogentisic acid were found. The purpose of this paper is to present a rare disease that mimics the inflammatory rheumatic diseases and degenerative changes in the joints, and for which there has not yet been discovered a specific treatment.