| Sažetak | Behçetova bolest (BD) je sistemska bolest opisana kao vaskulitis s autoimunim i autoinflamatornim karakteristikama. Kao jedan od glavnih etiopatogenetskih faktora spominje se HLA-B51, a kao mogući dodatni faktori spominju se polimorfizmi drugih gena. Bolest je najzastupljenija na „Putu svile“, a Turska se ističe kao država s najvećom prevalencijom. BD je podijeljena na BD u dječjoj, s vrhuncem pojavljivanja oko 12 godina, i odrasloj dobi kad se bolest pojavljuje u kasnijim dvadesetim godinama. Zahvaćeni su razni organski sustavi, a najčešće se prezentira mukokutanom zahvaćenošću na sluznicama kao rekurentne ulceracije, a na koži u obliku papulopustula ili nodoznog eritema. Osim toga zahvaćeni su i zglobovi, najčešće kao artritisi te oči kao uveitisi. Liječenje se uglavnom bazira na EULAR-ovim smjernicama. U ovom radu prikazana je pacijentica dijagnosticirana s juvenilnom BD kojoj su se simptomi pojavili s 11 godina. Prvotno se prezentirala s oslabljenim vidom koji je dijagnosticiran kao uveitis bez drugih simptoma koji bi upućivali na sistemsku, imunološku bolest. Obradom uveitisa, otkriveno je da djevojčica nosi gen HLA-B51, a s vremenom su se razvili drugi simptomi i znakovi; poput oralnih ulceracija i artritisa koji će kasnije ukazati na BD. Dijagnoza BD je postavljena nakon 2 godine od pojave prvog simptoma. Pacijentica je liječena glukokortikoidima, imunosupresivima i biološkom terapijom. Razvila je i mnoge komplikacije bolesti koje su uspješno izliječene, a zbog nuspojave na liječenje, bila je potrebna izmjena terapije. |
| Sažetak (engleski) | Behçet's disease (BD) is a systemic disease described as a vasculitis with autoimmune and autoinflammatory characteristics. HLA-B51 is mentioned as one of the main etiopathogenetic factors and polymorphisms of other genes are mentioned as possible additional factors.The disease is most common on the "Silk Road", and Turkey stands out as the country with the highest prevalence. BD is divided into paediatric BD, with peak onset around 12 years, and BD in adults, where the symptoms appear in the late twenties. Various systems are affected, but it is most often presented as mucocutaneous lesions, on the mucous membranes as recurrent ulcerations, and on the skin in the form of papulopustules or erythema nodosum. In addition, the joints are also affected, most often as arthritis, and the eyes, as uveitis. Treatment is usually based on the EULAR guidelines. This paper presents a patient diagnosed with juvenile BD, whose symptoms appeared at the age of 11. She initially presented with impaired vision that was diagnosed as uveitis, with no other symptoms that would suggest a systemic, immune disease. During evaluation for uveitis, it was discovered that the girl carries the HLA-B51 gene, and over time she developed other symptoms and signs, such as oral ulcerations and arthritis, which would later point to BD. She was diagnosed with BD almost 2 years after the first symptom appeared. The patient was treated with corticosteroids, immunosuppressants and biological therapy. She also developed many complications of the disease, which were successfully cured, and due to the side effects of the treatment, a change of therapy was necessary. |
