İrem ÜNLÜ, Barış NACIR, Alper Murat ULAŞLI, Hatice Rana ERDEM

Okronotik Spondiloz ve Artropati: Olgu Sunumu

Alkaptonüri; homogentisik asit oksidaz enzim eksikliğine bağlı gelişen nadir görülen otozomal resesif metabolik bir hastalıktır. Alkaptonüri pek çok sistemi etkileyebildiği gibi muskuloskeletal sistemle ilgili olarak omurgada ve periferik eklemlerde dejeneratif değişikliklere neden olur. Bu makalede bel ağrısı şikayeti olan, klinik, radyolojik ve laboratuvar değerlendirmeler sonucunda okronotik spondiloz ve artropati tanısı konulan bir vaka sunulmuş ve literatür eşliğinde tartışılmıştır.©2008, Fırat Üniversitesi, Tıp Fakültesi

Anahtar Kelimeler:

Alkaptonüri, okronozis, okronotik spondiloz, artropati

Ochronotic Spondylosis and Arthropathy: Case Report

Alkaptonuria is a rare autosomal recessive metabolic disorder caused by the lack of homogentisic acid oxidase enzyme. As alkaptonuria can affect multiple systems, musculoskeletal manifestation leads to degenerative changes of the spine and peripheric joints. In this article a case with the complaint of low back pain who diagnosed as ochronotic spondylosis and arthropathy in the light of clinical, radiologic and laboratory findings is presented and discussed with the review of literature. ©2008, Firat University, Medical Faculty.

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Keller JM, Macaulay W, Nercessian OA, Jaffe IA. New developments in ochronosis.review of the literature. Rheumatol Int 2005; 25: 81-85.
McColum DE, Odom GL. Alkaptonuria, ochronosis and low back pain:a case report. J Bone Joint Surg (Am) 1965; 47-A: 1389- 1392.
Manoj Kumar RV, Rajasekaran S. Spontaneous tendon ruptures in alkaptonuria. J Bone Joint Surg 2003; 85-B: 883-886. 4. Liu W, Prayson RA. Dura ochronosis(Alkaptonuria). Arch Pathol Lab Med 2001; 125: 961- 963. mater involvement in
Cetinus E, Cever I, Kural C, Erturk H, Akyıldız M. Ochronotic arthritis:case reports and review of the literature. Rheumatol Int 2005; 25: 465-468.
Kuntz D, Bardin T. Ochronosis. In:Hochberg Mc, Silman AJ (editors). Rheumatology 2003: 2011-2014.
Resnick D. Alkaptonuria. In:Resnick D (editor). Bone and Joint Imaging. Philadelphia:WB Saunders Company,1996: 444-448.
Farzannia A, Shokouhi G, Hadidchi S. Alkaptonuria and lumbar disc herniation. J Neurosurg (SpineI) 2003; 98: 87-89.
Borman P, Bodur H, Cılız D. Ochronotic arthropathy. Rheumatol Int 2002; 21: 205-209.
Weinberg KA. The coexistance of ochronosis and ankylosing spondylitis. J Rheumatol 1991; 18: 1264-1265.
Hamdi N, Cooke TD, Hassan B. Ochronotic arthropthy:case report and review of the literature.Int Orthop 1999; 23: 122-125.
Sahin G, Milcan A, Bagıs S, et al. A case of ochronosis:upper extremity involvement. Rheumatol Int 2001; 21: 78-80.
Nas K, Gur A, Akdeniz S, et al. Ochronosis:a case of severe ochronotic arthropathy. Clin Rheumatol 2002; 21: 170-172.
De Haas V, Carbasius Weber EC, de Klerk JB, et al. The successs of dietary protein restriction in alkaptonuria patients is age- dependent. J Inherit Metab Dis 1998; 21: 791-798.
Mannoni A, Selvi E, Lorenzini S. Alkaptonuria, ochronosis and ochronotic arthropathy. Semin Arthritis Rheum 2004; 33: 239-248.
Elcioglu E, Aytug AF, Muller CR, et al. Alkaptonuria caused by compound heterzygote mutations. Genetic Counselling 2003; 14: 207-213.
Kabul Tarihi:10.08.2007