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:: Volume 4, Issue 2 (1-2013) ::
Caspian J Intern Med 2013, 4(2): 677-680 Back to browse issues page
Three cases of alkaptonuria in one family in Mazandaran Province, Iran
Behnaz Yousefghahari *, Abbasali Ahmadi, Ardeshir Guran
Abstract:   (4326 Views)
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.
Keywords: Alkaptonuria, Cluster, Iran
Full-Text [PDF 181 kb]   (1062 Downloads)    
Type of Study: Original Article | Subject: Infectious Diseases
Received: 2014/01/15 | Accepted: 2014/01/15 | Published: 2014/01/15
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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-en.html


Volume 4, Issue 2 (1-2013) Back to browse issues page
Caspian Journal of Internal Medicine
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