title: [Generalized osteoarthritis in a young adult with type II collagenopathy].
abstract: METHODS
  In the 20-year-old patient increasing arthralgia since the age of seven years had caused functional impairment. As seronegative osteodestructive rheumatoid arthritis had been suspected, he was treated with methotrexate and steorid for ovemore than one year, without success.r
  
  
  METHODS
  The clinical examination revealed a compromised function of the knee and hip joints. Conventional radiographs showed severe degenerative changes in these regions. The radiographs of the lumbar and the thoracic spine were suggestive of osteoporotic fractures.
  
  
  METHODS
  The clinical and radiological findings led to the suspicion of a hereditary collagenous disease. Genetic analyses revealed a COL2A1 mutation. The treatment included analgesics, non-steroidal antirheumatic drugs, opiates and regular physiotherapy to build up and maintain muscle strength.
  
  
  CONCLUSIONS
  In young adult patients with osteoarthritis mutations in the COL2A1 gene should considered. This mutation with the substitution pArg75Cys should be in focus because of the phenotypes in clinical manifestations.
authors: Rheumazentrum Ruhrgebiet, Herne.
authors: F
authors: F
authors: Dybowski
authors: F
authors: F
authors: Moos
authors: E
authors: E
authors: Saracbasi-Zender
authors: F
authors: F
authors: Heldmann
authors: J
authors: J
authors: Braun
mesh_terms: D000367:Age Factors; D024043:Collagen Type II / Q000235:genetics*; D003937:Diagnosis, Differential; D006801:Humans; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging / Q000473:pathology; D008297:Male; D010003:Osteoarthritis / Q000175:diagnosis / Q000235:genetics*; D015207:Osteoarthritis, Hip / Q000175:diagnosis; D020370:Osteoarthritis, Knee / Q000175:diagnosis; D055013:Osteoarthritis, Spine / Q000000981:diagnostic imaging; D010009:Osteochondrodysplasias / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D058866:Osteoporotic Fractures / Q000000981:diagnostic imaging; D011859:Radiography; D013904:Thoracic Vertebrae / Q000000981:diagnostic imaging / Q000473:pathology; D055815:Young Adult
chemical_list: D024043:Collagen Type II