[Ochronotic changes in alkaptonuria: a case report].
Alkaptonuria is a rare metabolic condition caused by congenital homogentisate oxidase deficiency of recessive autosomal inheritance. Homogentisate polymers are accumulated and cause urine darkening (alcaptonuria), brown/black pigmentation of connective tissue (ochronosis), articular cartilage pathology, osteoporosis and patomorphologic changes in internal organs. A case of 61 female with ochronotic polyarthropathy is presented. An early result of Weller THR is encouraging. Pathogenesis, clinical picture, diagnostics and treatment of alkaptonuria is presented on the ground of the literature.
Kusz
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Katedra i Oddział Kliniczny Ortopedii, Slaska Akademia Medyczna w Katowicach.
D000474:Alkaptonuria / Q000175:diagnosis*; D019644:Arthroplasty, Replacement, Hip / Q000379:methods*; D005260:Female; D006801:Humans; D008875:Middle Aged; D009794:Ochronosis / Q000000981:diagnostic imaging* / Q000601:surgery*; D011859:Radiography; D012720:Severity of Illness Index