Ochronotic arthritis: case reports and review of the literature

Cetinus, Ercan; Cever, Ilhan; Kural, Cemal; Ertürk, Haldun; Akyildiz, Mustafa

doi:10.1007/s00296-004-0538-x

Cited by 41 publications

(37 citation statements)

References 8 publications

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“…Clinical symptoms of ochronotic arthritis are similar to those of rheumatoid arthritis. However, small joints are affected in rheumatoid arthritis, whereas the large joints are affected in ochronotic arthritis [9]. The third stage occurs after the fifth decade and may include rare organs manifestations such as renal, prostatic stones formation and cardiac involvement including valve calcification and stenosis, and coronary artery calcifications [10,11].…”

Section: Introductionmentioning

confidence: 99%

Nine cases of Alkaptonuria in one family in southern Jordan

Alsbou

Mwafi

2010

Rheumatol Int

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Alkaptonuria is a rare autosomal recessive metabolic disorder characterized by a deficiency of homogentisate 1,2-dioxygenase (HGO) in the liver. This results in excretion of large quantities of homogentisic acid (HGA) (also called alkapton) in the urine and a slowly progressive deposition of homogentisic acid and its oxidative product in connective tissues. Clinical characteristic features of alkaptonuria are darkening of urine, bluish-dark pigmentation of connective tissues (ochronosis) and arthritis of large joints and spine. Cardiovascular and genitourinary systems may also be affected. In this report, we present the initial results of screening family members with history of alkaptonuria in southern region of Jordan. We present 9 cases of alkaptonuria (two males and seven females) in one Jordanian family. The history, signs and symptoms, diagnostic techniques and treatment options of alkaptonuria are reviewed in this article.

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Section: Introductionmentioning

confidence: 99%

Nine cases of Alkaptonuria in one family in southern Jordan

Alsbou

Mwafi

2010

Rheumatol Int

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“…HGA oksidaz enzimini rekombinan teknoloji ile yerine koyma gelecek için ümit veren bir tedavi seçene-ği olabilir (11,15). Okronotik artropati dejeneratif bir artrittir, erken dönemde analjezikler, steroid olmayan antienflamatuvar ilaçlar ve fizik tedavi ile semptomatik tedavi yapılsa da ilerlemiş diz ve kalça tutulumlarında kalça ve diz artroplastisi önerilmektedir (17)(18)(19).…”

Section: Discussionunclassified

Artroskopik olarak tanı konulan bir okronozis olgusu

Korkmaz¹,

Şener²,

Öztürk³

et al. 2017

Bakirkoy

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O kronozis bağ dokusunun kahverengi-siyah pigmentasyonu ile karakterize, 250000 doğumda bir görülen otozomal resesif geçişli metabolik hastalıktır. Alkaptonü-ride konnektif dokuların yeşil-kahverengi-siyah bir renk aldığını tarif eden Virchow tarafından bulunmuştur (1,2). Fenilalanin ve tirozin metabolizması sırasında gerekli bir enzim olan homogentisik asit oksidazın karaciğer ve böbrek hücrelerinde eksikliği söz konusudur. HGO(homogentisik asit oksidaz) geni kromozom 3'ün uzun kolunda yer alır ve bu genin defekti homogentistik asit'in (HGA) başta kıkırdak olmak üzere çeşitli konnektif dokularda birikmesine ve hastalığın semptomlarına sebep olur (1,3).İdrarın hava ile teması sonrasında renginin koyulaş-ması, yüz ve el derisinde, sklerada, kulak kıkırdaklarında mavi pigmentasyon görülür. Aortik ve kardiak kapak kalsifikasyonu, lomber intervertebral disk mesafesinde daralma ve kalsifikasyon ile diz ve kalçada osteoartroz görülür (4,5).Bu hastalıkta iskelet sistemi tutulum bulguları genellikle 30'lu yaşlardan sonra görülmektedir. Hastalığın tanı-sı klinik olarak vertebralar ve büyük eklemlerde dejeneOlgu Sunumları / Case Reports ÖZET Artroskopik olarak tanı konulan bir okronozis olgusu Okronozis bağ dokusunun kahverengi-siyah pigmentasyonu ile karakterize, 250000 doğumda bir görülen otozomal resesif geçişli metabolik hastalıktır. İdrarın hava ile teması sonrasında renginin koyulaşması, yüz ve el derisinde, sklerada, kulak kıkırdaklarında mavi pigmentasyon görülür. Okronozis de aortik ve kardiak kapak kalsifikasyonu,lomber intervertebral disk mesafesinde daralma ve kalsifikasyon ile diz ve kalça ekleminde osteoartroz görülür. Bu vakada her iki diz ve bel ağrısı şikayeti ile iç hastalıkları kliniğinde takip edilen ve romatizmal hastalık ön tanısı ile antiromatizmal tedavi başlanan, şikayetlerinin geçmemesi nedeniyle çekilen MRI da menisküs yırtığı saptanan hastanın diz artroskopi esnasında menisküslerde ve kıkırdaklarda mavi pigmentasyonlar gözlenmesi üzerine ileri tetkikler yapılarak okronozis tanısı konan hastanın sunumu yapıldı.Anahtar kelimeler: Okronozis, artroskopi, alkaptonuri\tanı, diz eklemi\patoloji ABSTRACT An ochronosis case diagnosed by arthroscopyOchronosis is a metabolic disorder which is characterized by bluish-black discoloration in connective tissue. The incidence of ochronosis is aproximately one in 250000 live births. Ochronosis has an autosomal recesive inheritance. Patients have bluish pigmentation of auricular cartilages, sclera and skin of the hand and face. Urine colour change into dark after exposure to air or substance. Calcification of aortic and cardiac valves, narrowing and calcification( degeneration) in lomber intervertebral disc space and artritis in knee and hip joints may be seen in ochronosis. In this case patient complain of pain in the both knees and waist. Although Patient diagnosed as a raumatologic disorder and treated with medicine his knee symptoms did not relive. Patient send to MRI for further investigation. In MRI menisceal tear was seen. During knee arhroscopy bluish di...

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“…Calcification in the disc spaces is a prominent feature of the condition; earliest and most marked changes generally occur in the lumbar spine, later spreading to thoracic and cervical segments (Schumacher, 1989;Emel et al, 2000;Şahin et al, 2001;Farzannia et al, 2003). The process begins with sclerosis of the end-plates, and culminates in ankylosis (O'Brien et al, 1963;Laskar & Sargison, 1970;Borman et al, 2002;Farzannia et al, 2003;Cetinus et al, 2005). Calcified depositis in intervertebral discs are generally hydroxyapatite (Bywaters et al, 1970 Lagier & Sitaj, 1974), although calcium pyrophosphate dihydrate has also been reported (McClure et al, 1983).…”

Section: Discussionmentioning

confidence: 99%

“…There may be calcified prostatic concretions, and calcification of the costal and upper respiratory tract cartilages (O'Brien et al, 1963;Laskar & Sargison, 1970;McClure et al, 1983). Calcified bodies may form in peri-articular soft tissue and may be several centimetres across (Cetinus et al, 2005).…”

Section: Discussionmentioning

confidence: 99%

“…Disc herniation with formation of Schmorl's nodes is a recognised feature (O'Brien et al, 1963;Emel et al, 2000). Degenerative arthropathy typically affects the large joints of the appendicular skeleton, particularly the hips, knees and shoulders (Justensen & Andersen, 1984;Cetinus et al, 2005), and may be severe. The small joints of the hands and feet are characteristically spared (O'Brien et al, 1963;Borman et al, 2002).…”

Section: Discussionmentioning

confidence: 99%

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Intervertebral chondrocalcinosis: an exercise in differential diagnosis in palaeopathology

Mays

Dungworth

2008

Intl J of Osteoarchaeology

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Intervertebral chondrocalcinosis (calcification of intervertebral discs and associated structures) may arise from a variety of causes. This work presents a discussion of intervertebral chondrocalcinosis and the identification of its most probable cause in skeletal remains, using as a case study a skeleton of an elderly male from medieval Ipswich, UK. The skeleton is examined using gross observation and radiography, and the intervertebral calcifications are subject to chemical analysis. In addition to intervertebral chondrocalcinosis (which has resulted in ankylosis of lumbo-sacral segments), lesions identified include chondrocalcinosis at some synovial joints, various soft tissue calcified bodies, and severe osteoarthritis particularly at the gleno-humeral joints. Interpretation of the results of the chemical analysis of the calcified deposits is complicated by diagenesis, but they are most consistent with apatite and/ or whitlockite. Arriving at a most probable cause of the lesions in this case is difficult, but it is tentatively suggested that ochronosis may be the best diagnostic option.

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Ochronotic arthritis: case reports and review of the literature

Cited by 41 publications

References 8 publications

Nine cases of Alkaptonuria in one family in southern Jordan

Nine cases of Alkaptonuria in one family in southern Jordan

Artroskopik olarak tanı konulan bir okronozis olgusu

Intervertebral chondrocalcinosis: an exercise in differential diagnosis in palaeopathology

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