نتایج جستجو برای: alkaptonuria
تعداد نتایج: 375 فیلتر نتایج به سال:
Ochronotic arthropathy is a manifestation of longstanding alkaptonuria. With increasing age, an accumulation of pigment deposits of homogentisic acid in the joint cartilage results in ochronotic osteoarthritis. We present a case of a 62-year-old female who underwent staged left uncemented total hip and right cemented total knee arthroplasty for osteoarthritis secondary to ochronosis.
In 1901, Sir Archibald Edward Garrod made the seminal observation on the inheritance of the inborn errors of metabolism [1, 2]. He described a newborn infant whose urine darkened in its napkin on exposure to air and contained homogentisic acid [2]. The infant was born to apparently normal consanguineous (first cousins) parents and was their fifth child. An older sibling (Thomas P) had previousl...
An elderly gentleman with chronic lower back and bilateral knee pain was found to have clinical and radiographic findings consistent with alkaptonuria. Diagnosis was confirmed by the detection of elevated homogentisic acid level in the urine using gas chromatography-mass spectrometry.
Ochronotic spondylarthropathy, a long-term musculoskeletal manifestation of alkaptonuria and involvement of joints may lead to a radiographic appearance similar to that of degenerative joint disease. We report the cases of two siblings with progressive familial ochronotic arthropaty treated with total hip arthroplasty.
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