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Caspian Journal of Internal Medicine، جلد ۴، شماره ۲، صفحات ۶۷۷-۶۸۰
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
Three cases of alkaptonuria in one family in Mazandaran Province, Iran |
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| چکیده انگلیسی مقاله |
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. |
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| کلیدواژه‌های انگلیسی مقاله |
Alkaptonuria, Cluster, Iran |
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| نویسندگان مقاله |
بهناز یوسف قهاری | behnaz yousefghahari
عباسعلی احمدی | abbasali ahmadi
اردشیر گوران | ardeshir guran
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| نشانی اینترنتی |
http://www.caspjim.com/browse.php?a_code=A-10-62-142&slc_lang=en&sid=en |
| فایل مقاله |
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| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
Infectious Diseases |
| نوع مقاله منتشر شده |
Original Article |
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