Caspian Journal of Internal Medicine
Babol University of Medical Sciences
چهارشنبه 29 اسفند 1403
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دوره ۴، شماره ۲ - ( ۱۰-۱۳۹۱ )
جلد ۴ شماره ۲ صفحات ۶۸۰-۶۷۷ |
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Yousefghahari B, Ahmadi A, Guran A. Three cases of alkaptonuria in one family in Mazandaran Province, Iran. Caspian J Intern Med 2013; 4 (2) :677-680
URL: http://caspjim.com/article-1-202-fa.html
URL: http://caspjim.com/article-1-202-fa.html
Three cases of alkaptonuria in one family in Mazandaran Province, Iran. . ۱۳۹۱; ۴ (۲) :۶۷۷-۶۸۰
چکیده: (۷۹۵۶ مشاهده)
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 Rheumatology Clinic of Babol University of Medical Sciences. The physical examination showed thoracic kyphosis and limitation of motion in thoraco-lumbar spine, severe knee osteoarthritis and blue-black discoloration of ear cartilages. There was intervertebral disc calcification in plain radiography, and mitral valve calcification in echocardiography. His urine sample was tested positive in Benedict’s test. The diagnosis was confirmed by qualitative assessment of homogentesic acid (HGA) that was highly positive. In addition, we found two more cases of Alkaptonuria in his family.
Conclusion: Although alkaptonuria is a rare disease, but it may be found in cluster among the family members.
Case Presentation: A 51-year-old man with mechanical low back and knee pain was referred to Rheumatology Clinic of Babol University of Medical Sciences. The physical examination showed thoracic kyphosis and limitation of motion in thoraco-lumbar spine, severe knee osteoarthritis and blue-black discoloration of ear cartilages. There was intervertebral disc calcification in plain radiography, and mitral valve calcification in echocardiography. His urine sample was tested positive in Benedict’s test. The diagnosis was confirmed by qualitative assessment of homogentesic acid (HGA) that was highly positive. In addition, we found two more cases of Alkaptonuria in his family.
Conclusion: Although alkaptonuria is a rare disease, but it may be found in cluster among the family members.
نوع مطالعه: Original Article |
موضوع مقاله:
Infectious Diseases
دریافت: 1392/10/25 | پذیرش: 1392/10/25 | انتشار: 1392/10/25
دریافت: 1392/10/25 | پذیرش: 1392/10/25 | انتشار: 1392/10/25
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