Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030193 (pain)
 261,466 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the case of a 62 year old man diagnosed of alkaptonuria who was referred to our department to undergo bone scintigraphy for polyarthralgia. The patient had a history of pain in lumbar and thoracic spine, right shoulder and left knee. Bone scintigraphy showed multiple joint disease with increased uptake in both shoulders, knees and spine. Higher uptake stood out in painful right shoulder and left knee joints. Ochronotic arthropathy that is developed in alkaptonuric patients is a degenerative joint disease. X-ray studies in this patient showed marked degenerative arthrosis in knees and shoulders, without more intense involvement in the symptomatic joints. Lumbar spine X-rays showed intervertebral disk calcification with disk collapse and fusion of the vertebral bodies with relative sparing of sacroiliac joint, which is a classic feature of ochronotic arthropathy. This case highlights the utility of bone scintigraphy in the evaluation of joint involvement as well as its correlation with clinical course and potential usefulness in the follow-up of this disease.
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PMID:[Ochronotic arthropathy: the value of bone scintigraphy in alkaptonuria]. 1515 62

Ochronotic arthropathy is a rare condition found in patients with alkaptonuria. Due to the accumulation of homogentisic acid, cartilages get a dark discoloration and become brittle and more vulnerable to mechanical stress (Centinus et al. Rheumatol Int 3:127-131, 2004; Hamdi et al. Int Orthop 23:122-125, 1999; Phornphutkul, N Engl J Med 347:2111-2121, 2002; Thacker, Arthroscopy 19:14-17, 2003). This case report is about a patient first diagnosed for ochronosis by arthroscopy of the knee. Her brother was having similar complaints during follow-up. Both patients were prescribed to take glucosamine and chondroitine. Although no report is found in the literature, regarding the success of this therapy in patients with ochronosis, both patients reported a positive effect on articular pain and daily activities.
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PMID:Ochronosis, arthroscopy of a black knee: a case report and review of the literature. 1975 14

Ochronotic arthropathy mainly involves the spine and large joints. Along with blackening of the joint, degeneration rapidly progresses mostly in the knee, resulting in symptoms by the 4th or 5th decade. As the role of medical treatment and joint conservation surgeries are limited in the early stages, joint replacement is the only effective option in one third of patients. We present a case of the unique complication of patellar ligament rupture during total knee replacement (TKR) of an ochronotic joint. A 51-year-old male presented with bilateral severe tricompartmental osteoarthritis with varus deformities and restriction of motion. Bilateral TKR was performed. At the 28-month follow-up, the patient was walking pain free with acceptable position of implants in radiographs. To our knowledge this is the first report of rupture of the patellar ligament during TKR of an ochronotic joint. We propose appropriate preoperative preparation and greater care in the handling of the tendon during TKR of an ochronotic joint in order to avoid complication.
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PMID:Patellar ligament rupture during total knee arthroplasty in an ochronotic patient. 2490 31