Öz
Ochronosis is a disease that shows autosomal recessive transition that develops due to homogenistic acid oxidase enzyme deficiency and progresses with the accumulation of HA metabolites in connective tissues. It is characterized by a gray-black pigmentation in the tissues. This accumulation is more common especially in connective tissues. The most affected segment is the lumbar region in the spine. Homogenistic acid and its metabolites accumulate at disc distance, causing narrowing at disc distance, calcifications and instability in the intervertebral disc. It should be kept in mind in the differential diagnosis of lumbar spondylosis in younger cases. In our study, 2 ocronotic cases with lumbar involvement were presented. Especially in the 2nd case, the effects of accumulation on spondylotic disruption in lumbar spine segment were clearly seen. Studies with larger patient series are needed to prevent the development of spondylosis in ocronotic cases and to develop effective treatment methods.
Anahtar Kelimeler
Kaynakça
- 1. Keller JM, Macaulay W, Nercessian OA, Jaffe IA: New developments in ochronosis.review of the literature. Rheumatol Int 2005;25(2): 81-85.
- 2. Ünlü İ, Nacır B,Ulaşlı AM, Erdem HR. Okronotik Spondiloz ve Artropati: Olgu Sunumu. Fırat Tıp Dergisi 2008;13 (3): 220-223.
- 3. Manoj Kumar RV, Rajasekaran S: Spontaneous tendon ruptures in alkaptonuria. J Bone Joint Surg 2003;85-B: 883-886.
- 4. O’Brien WM, La Du BN, Bunim JJ: Biochemical, pathological and clinical aspects of alkaptonuria, ochronosis and ochronotic world literature (1584- 1962). Am J Med 1963;34: 813-838.
- 5. 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.
- 6. Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, fitzpatric DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA: Natural History of Alkaptonuria N Engl J Med 2002;347: 2111–2.
- 7. Fisher AA, Davis MW: Alkaptonuric Ochronosis with Aortic Valve and Joint Replacements and Femoral Fracture: A Case Report and Literature Review. Clin Med Res Nov; 2004;2(4):209-15.
- 8. Haas V, Weber ECC, Klerk JB, Bakker HD, Simit GP, Huijbers WA, Duran M, Poll-The BT: The successsof dietary protein restriction in alkaptonuria patients is age dependent. J Inherit Metab Dis 1998;21: 791-798.
- 9. Anikster Y, Nyhan WL, Gahl WA. NTBC and alkaptonuria. Am J Hum Genet 1998;63:920-921. 10. Van offel JF, De Clerck LS, Francx LM, Stevens WJ: The clinical manifestations of ochronosis: a review. Acta Clin Belg 1995;50:358-362.
- 11. Mannoni A, Selvi E, Lorenzini S, Giorgi M, Airo P, Cammelli D, Andreotti L, Marcolongo R, Porfirio B: Alkaptonuria, ochronosis and ochronotic arthropathy. Semin Arthritis Rheum 2004;33: 239-248.
Öz
Okronozis, homojenistik asit oksidaz enzim eksikliğine bağlı olarak gelişen ve bağ dokularında HA metabolitlerinin birikmesi ile ilerleyen otozomal çekinik geçiş gösteren bir hastalıktır. Dokularda gri-siyah pigmentasyon ile karakterizedir. Bu birikim özellikle bağ dokularında daha sıktır. En çok etkilenen segment omurgadaki lomber bölgedir. Homojenistik asit ve metabolitleri disk mesafesinde birikerek disk mesafesinde daralmaya, kalsifikasyonlara ve intervertebral diskte instabiliteye neden olur. Daha genç olgularda lomber spondiloz ayırıcı tanısında akılda tutulmalıdır. Çalışmamızda lomber tutulumu olan 2 adet okronozisli olgu sunuldu. Özellikle 2. olguda lomber omurga segmentinde birikimin spondilotik bozulma üzerindeki etkileri net olarak görüldü. Okronozisli olgularda spondiloz gelişimini önlemek ve etkin tedavi yöntemleri geliştirmek için daha geniş hasta serili çalışmalara ihtiyaç vardır.
Anahtar Kelimeler
Kaynakça
- 1. Keller JM, Macaulay W, Nercessian OA, Jaffe IA: New developments in ochronosis.review of the literature. Rheumatol Int 2005;25(2): 81-85.
- 2. Ünlü İ, Nacır B,Ulaşlı AM, Erdem HR. Okronotik Spondiloz ve Artropati: Olgu Sunumu. Fırat Tıp Dergisi 2008;13 (3): 220-223.
- 3. Manoj Kumar RV, Rajasekaran S: Spontaneous tendon ruptures in alkaptonuria. J Bone Joint Surg 2003;85-B: 883-886.
- 4. O’Brien WM, La Du BN, Bunim JJ: Biochemical, pathological and clinical aspects of alkaptonuria, ochronosis and ochronotic world literature (1584- 1962). Am J Med 1963;34: 813-838.
- 5. 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.
- 6. Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, fitzpatric DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA: Natural History of Alkaptonuria N Engl J Med 2002;347: 2111–2.
- 7. Fisher AA, Davis MW: Alkaptonuric Ochronosis with Aortic Valve and Joint Replacements and Femoral Fracture: A Case Report and Literature Review. Clin Med Res Nov; 2004;2(4):209-15.
- 8. Haas V, Weber ECC, Klerk JB, Bakker HD, Simit GP, Huijbers WA, Duran M, Poll-The BT: The successsof dietary protein restriction in alkaptonuria patients is age dependent. J Inherit Metab Dis 1998;21: 791-798.
- 9. Anikster Y, Nyhan WL, Gahl WA. NTBC and alkaptonuria. Am J Hum Genet 1998;63:920-921. 10. Van offel JF, De Clerck LS, Francx LM, Stevens WJ: The clinical manifestations of ochronosis: a review. Acta Clin Belg 1995;50:358-362.
- 11. Mannoni A, Selvi E, Lorenzini S, Giorgi M, Airo P, Cammelli D, Andreotti L, Marcolongo R, Porfirio B: Alkaptonuria, ochronosis and ochronotic arthropathy. Semin Arthritis Rheum 2004;33: 239-248.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Sağlık Kurumları Yönetimi |
| Bölüm | Orjinal makale |
| Yazarlar | |
| Yayımlanma Tarihi | 31 Ağustos 2021 |
| Yayımlandığı Sayı | Yıl 2021 Cilt: 8 Sayı: 2 |
