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:: دوره 4، شماره 2 - ( 10-1391 ) ::
جلد 4 شماره 2 صفحات 677-680 برگشت به فهرست نسخه ها
Three cases of alkaptonuria in one family in Mazandaran Province, Iran
چکیده:   (4575 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.
متن کامل [PDF 181 kb]   (1112 دریافت)    
نوع مطالعه: Original Article | موضوع مقاله: Infectious Diseases
دریافت: ۱۳۹۲/۱۰/۲۵ | پذیرش: ۱۳۹۲/۱۰/۲۵ | انتشار: ۱۳۹۲/۱۰/۲۵
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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

Three cases of alkaptonuria in one family in Mazandaran Province, Iran. 1. 1391; 4 (2) :677-680

URL: http://caspjim.com/article-1-202-fa.html



دوره 4، شماره 2 - ( 10-1391 ) برگشت به فهرست نسخه ها
Caspian Journal of Internal Medicine
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