Alkaptonüri tirozin metabolizmasında yer alan homogentisik asit oksidaz enzim eksikliğine bağlı olarak idrarda homogentisik asit atılımıyla karakterize nadir görülen bir hastalıktır. Enzim eksikliğine bağlı biriken metabolitlerin doku ve iç organlarda birikmesi olarak tanımlanan okronozis, ilgili dokuda pigmentasyon artışına ve organ patolojilerine sebep olmaktadır. Benzer klinik tablolar oluşturması nedeniyle spondiloartropati, diffüz idiopatik iskelet hiperostozis, juvenil idiopatik artrit, osteoartrit gibi pek çok hastalığın ayırıcı tanısına girebilmektedir. Özgün bir tedavi yöntemi henüz olmamakla birlikte diyet modifikasyonu, ağrı kontrolü, hasta eğitimi ve uygun egzersiz programı oluşturulması tedavi seçeneklerini oluşturmaktadır. Bu vaka sunumunda boyun, bel ağrısı ve dizde artrit öyküsü olan hastada okronozisin spondiloartropati ve artrit ayırıcı tanısında akılda bulundurulması gerektiğine dikkat çekmek istedik.
DESTEKLEYEN KURUM BULUNMAMAKTADIR
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Alkaptonuria is a rare disease characterized by homogentisic acid excretion in the urine due to the deficiency of the homogentisic acid oxidase enzyme involved in tyrosine metabolism. Ochronosis, which is defined as the accumulation of metabolites in tissues and internal organs due to enzyme deficiency, causes increased pigmentation in the relevant tissue and organ pathologies. Because of its similar clinical features, it should be differentiated from many diseases such as spondyloarthropathy, diffuse idiopathic skeletal hyperostosis, juvenile idiopathic arthritis, and osteoarthritis. Although there is no specific treatment, dietary modification, pain control, patient education, and appropriate exercise program are the treatment options. In this case report, we presented a patient with a history of neck, low back pain, and knee arthritis with a diagnosis of ochronosis, which we would like to draw attention to in the differential diagnosis of spondyloarthropathy and arthritis.
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Primary Language | Turkish |
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Subjects | Health Care Administration |
Journal Section | Articles |
Authors | |
Project Number | - |
Publication Date | December 31, 2022 |
Submission Date | April 7, 2022 |
Acceptance Date | June 13, 2022 |
Published in Issue | Year 2022 Volume: 15 Issue: 3 |
MEU Journal of Health Sciences Assoc was began to the publishing process in 2008 under the supervision of Assoc. Prof. Gönül Aslan, Editor-in-Chief, and affiliated to Mersin University Institute of Health Sciences. In March 2015, Prof. Dr. Caferi Tayyar Şaşmaz undertook the Editor-in Chief position and since then he has been in charge.
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