گزارش یک مورد اکرونوزیس آلکاپتونوریک

  F Abbasi [1] , Ph.D S Naji [2] , Ph.D F Mirzatolui [3] , MD G Behjati [4] , Ph.D    Received: 28 April, 2008 Accepted: 5 Nov, 2008  Abstract  Alkaptonuria is a rare autosomal recessive disorder characterized by deficiency of homogentisic acid oxidase. This deficiency leads to accumulation of homogentisic acid in tissues and its urinary excretion and resulting in characteristic features like ochronosis, darkening of urine, and arthropathy. We describe a case of alkaptonuric ochronosis in a 62 year old man, who had alkaptonuria, degenerative arthropathy of hip and knees, spinal abnormalities similar to ankylosing spondylitis and renal calculi.Total replacement of hip joint was done. Total replacement of hip joint was done.     Keywords: Alkaptonuria, Ochronosis, Degenerative arthropathy     Address: Imam Khomeni Hospital , Urmia Tel: 09141452352     E-mail: [email protected]     Source: UMJ 2009: 19(4): 367 ISSN: 1027-3727   [1] Assistant Professor of Pathology, Urmia University of Medical Sciences (Corresponding Author)  [2] Assistant Professor of Pathology, Urmia University of Medical Sciences   [3] Associate Professor of Orthopedics, Urmia University of Medical Sciences   [4] Specialist in Pathology, Legal Medicine Center of Isfahan