Ankilozan spondiliti taklit eden omurga tutulumu: Alkaptonürili bir olgu

Year 2020, Volume: 53 Issue: 2, 128 - 131, 31.08.2020

Erdal Bodakçi , İbrahim Vasi , Ebru Özden Yılmaz , Esra Şendil

https://doi.org/10.20492/aeahtd.735139

Cited By: 1

Abstract

Alkaptonüri; homogentisik asit oksidaz enzim eksikliğine bağlı gelişen nadir görülen otozomal resesif geçen metabolik bir hastalıktır. Alkaptonüri pek çok sistemi etkileyebildiği gibi muskuloskeletal sistemle ilgili olarak omurgada ve periferik eklemlerde dejeneratif değişikliklere neden olur. 53 yaşında kadın hasta progressif artan bel ağrısı ve diz ağrısı nedeniyle çekilen grafilerde spinal ankiloz olması üzerine olası Ankilozan spondilit açısından romatoloji kliniğimize yönlendirilmişti. Fizik muayenesinde kulaklarda, burunda ve tırnaklarda mavimsi siyah renk değişiklikleri görüldü. Spinal grafilerinde disk aralıkları daralmış, disklerde kalsifikasyon ve dejenerasyon, üst lomber vertebralarda füzyon ve sakroiliak eklemlerin açık olduğu görüldü. Bu makalede bel ağrısı ve dizde şişlik şikayeti olan, klinik, radyolojik ve laboratuvar değerlendirmeler sonucunda okronotik spondiloz ve periferik artropati tanısı konulan bir vaka sunulmuş

Keywords

alkaptonüri, ankilozan spondilit, disk kalsifikasyonu, okronozis

Spinal involvement resembling ankylosing spondylitis: An alkaptonuria case

Abstract

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. The patient, a 53‐year‐old woman with progressively worsening back pain and swelling in the knee, was referred to our rheumatology clinic for ankylosing spondylitis (AS) evaluation after being informed that she had spinal ankylosis on radiographs. On physical examination, she had bluish‐black discoloration of her external ears, nose and nails. Spine radiographs showed severe disc space narrowing with calcification of the degenerated lower lumbar spine discs, fusion of the upper lumbar spine disc spaces and the sacroiliac joints were patent. In this article a case with the complaint of low back pain and swelling in the knee who diagnosed as ochronotic spondylosis and peripheric arthropathy in the light of clinical, radiologic and laboratory findings is presented and discussed.

Keywords

alkaptonuria, ankylosing spondylitis, disc calcification, ochronosis

References

• 1. Keller JM, Macaulay W, Nercessian OA, Jaffe IA. New developments in ochronosis.review of the literature. Rheumatol Int 2005; 25: 81-85. 2. Manoj Kumar RV, Rajasekaran S. Spontaneous tendon ruptures in alkaptonuria. J Bone Joint Surg 2003; 85-B: 883-886. 3. Mestan MA, Bustin GL, Wagner LA. Chiropractic care and ochronotic arthropathy. J Manipulative Physiol Ther 1999;22:473-7. 4. Bezer M, Kocaoğlu B, Guven O. Ankylosis of the spine in a case with ochronosis. Acta Orthop Traumatol Turc 2003;37:344-7. 5. Resnick D. Alkaptonuria. In:Resnick D (editor). Bone and Joint Imaging. Philadelphia:WB Saunders Company,1996: 444-448. 6. Resnick D, Niwayama G. Radiographic and pathologic features of spinal involvement in diffuse idiopathic skeletal hyperostosis (DISH). Radiology 1976; 119:559. 7. Mannoni A, Selvi E, Lorenzini S, Giorgi M, Airó P,Cammelli D. Alkaptonuria, ochronosis, and ochronotic arthropathy. Semin Arthritis Rheum 2004;33:239-48 8. Milan AM, Hughes AT, Davison AS, et al. The effect of nitisinone on homogentisic acid and tyrosine: a two-year survey of patients attending the National Alkaptonuria Centre, Liverpool. Ann Clin Biochem 2017; 54:323. 9. Ranganath LR, Timmis OG, Gallagher JA. Progress in Alkaptonuria--are we near to an effective therapy? J Inherit Metab Dis 2015; 38:787. 10. Wolff JA, Barshop B, Nyhan WL, et al. Effects of ascorbic acid in alkaptonuria: alterations in benzoquinone acetic acid and an ontogenic effect in infancy. Pediatr Res 1989; 26:140.