Olgu Sunumu: Okronotik Artropati

Okronozis, homogentisik asit oksidaz enziminin eksikliðine baðlý oluþan ve ender görülen metabolik hastalýktýr. Homojentisik asitin yumuþak dokularda birikimi ve idrarda atýlýmý ile ilgili klinik bulgu vermektedir. Okronotik artropati tanýlý hastalarda genellikle eklem aðrýlarý ve inflamatuar bel aðrýsý yakýnmasý mevcuttur. Aksiyel tutulum radyolojik olarak ankilozan spondilite (AS) benzese de tipik sindesmofitlerin, faset tutulumunun, sakroiliak erozyonu ve füzyonunun bulunmayýþý ile ayrýlýr. Okronozis hastalýðýnýn etkin bir tedavisi olmamakla birlikte; hastamýza literaturde önerilen proteinden fakir diyet, C vitamini desteði (100 mg/kg/gün) ve semptomlara yönelik analjezik tedavi verilmiþ, eklem yakýnmalarýnda azalma gözlenmiþtir. Bu olguda amaç, öncesinde AS tanýsý ile izlenen ender görülen okronotik artropati tanýsýný koymak ve hem aksiyal hem de periferik eklem tutulumunun bu hastalýkta beraber olabileceðini göstermektir.

Case Report: Ochronotic Arthropathy

Ochronosis is a rare metabolic disease caused by the deficiency of the homogentisic acid oxidase enzyme. It gives clinical findings related to the accumulation of homogentisic acid in soft tissues and excretion in urine. Patients with chronic arthropathy usually have some joint pain and inflammatory back pain. Although axial involvement radiologically resembles ankylosing spondylitis (AS), it is differentiated by the absence of typical syndesmophytes, facet involvement, sacroiliac erosion and fusion.Although there is no effective treatment for ochronosis disease; our patient was given a protein-poor diet, vitamin C supplementation (100 mg/kg/day) and analgesic treatment for symptoms recommended in the literature; and a reduction in joint complaints was observed. In this case, the aim is to diagnose the rare ochronotic arthropathy followed with the diagnosis of AS and to show that both axial and peripheral joint involvement can be together in this disease.