[Alkaptonuria. Ochronotic arthropathy caused by hereditary metabolic disease].
Alkaptonuria is a rare hereditary metabolic disease. We report the case of a 72-year-old woman who suffered from pain and limitation of motion in the major joints and spine since middle age because of osteoarthrosis deformans alkaptonurica.During knee replacement typical black coloration were detected. Early therapy can reduce disease progression but there is no way to heal alkaptonuria.
Klein
A
A
Institut für Rechtsmedizin, Universität Hamburg, Butenfeld 34, 22529, Hamburg. anke.klein@uke-hh.de
Körner
H-W
HW
Schulz
F
F
D000474:Alkaptonuria; D005260:Female; D006801:Humans; D009794:Ochronosis / Q000151:congenital / Q000175:diagnosis / Q000601:surgery; D010003:Osteoarthritis / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery*; D016896:Treatment Outcome
Z Kinderheilkd. 1952 Aug;71(5):462-75
13006770
Rheumatol Int. 2005 Aug;25(6):465-8
15580350