Alkaptonuria - more than meets the eye.
نویسندگان
چکیده
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.
منابع مشابه
Alkaptonuria--first inborn error of metabolism known for a century and new treatment option--preliminary report.
Alkaptonuria is a rare inborn error of metabolism, identified over a century ago. But its basic pathomechanism (i.e. ochronosis) is still not completely explained. Though clinical onset of osteoarthropathy and complications from other organs (including: heart and blood vessels, skin, eyes, kidneys) occurs at adult age, the symptoms are progressive, cause severe pains and significantly limit eve...
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متن کاملThree cases of alkaptonuria in one family in Mazandaran Province, Iran
Background: Alkaptonuria is a rare genetic disease leading to the accumulation of homogentesic acid in joint and ear cartilage, sclera and some other tissues causing significant morbidity in these patients. In this paper, we report three cases of Alkaptonuria among the family or household members. Case Presentation: A 51-year-old man with mechanical low back and knee pain was referred to Rheuma...
متن کاملSELF ASSESSMENT ANSWERS Pigmented sclera: a diagnostic challenge?
The sister also has alkaptonuria (fig 2; see p 491). Alkaptonuria is an autosomal recessive disorder. Siblings are more likely to suffer from the condition than parents or offspring. Usually there is a history of consanguineous marriage in the parents of affected offspring. However, the parents of the brother and sister reported here were unrelated to each other before marriage and hailed from ...
متن کاملEarly detection of alkaptonuria.
Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxidase. This leads to the characteristic features like darkening of urine, ochronosis and arthropathy. Darkening of urine is one of the first symptoms noticed by the parents of the child suffering from this disorder. Ochronosis is seen in various organs like eyes, skin, tendons and joints. A case of ...
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ورودعنوان ژورنال:
- The Medical journal of Malaysia
دوره 68 1 شماره
صفحات -
تاریخ انتشار 2013