What does the arthropathy of alkaptonuria teach us about disease mechanisms in osteoarthritis and ageing of joints?
نویسندگان
چکیده
منابع مشابه
Alkaptonuria in a middle-aged female
Background: Alkaptonuria (AKU) or ochronosis is a rare progressive degenerative arthropathy that results from deficiency of enzyme homogentisate 1,2 dioxygenase (HGD). The features include arthritis of the spine and in larger peripheral joints, with chondrocalcinosis. In this paper, we present a case of alkaptonuria in a 54 year old woman in Tehran, Iran. Case Presentation: A 54 year old woman ...
متن کاملOchronotic Arthropathy: Two Case Reports from a Developing Country
Alkaptonuria is a rare inborn error of metabolism, which is classified as an orphan disease. It is due to the lack of an enzyme homogentisate 1,2-dioxygenase, which results in an accumulation of homogentisic acid in different areas of the body, including sclera, skin, cardiac valves, articular cartilage of the large joints and intervertebral disks. We present two cases of alkaptonuria resulting...
متن کاملPathological Findings of Osteoarthritis in Sternoclavicular Joint
Background: The sternoclavicular joint (SCJ) is the only synovial articulation between the upper extremity and the trunk. This joint is one of the most frequently used joints, so osteoarthritis (OA) should be very common. However, there are few studies about OA in this joint. Methods: In this study, 48 sternoclavicular joints from the left and right joints of 23 cases and two left joints from t...
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 کاملAlkaptonuria.
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA). Characteristically, the excess HGA means sufferers pass dark urine, which upon standing turns black. This is a feature present from birth. Over time patients develop other manifestations of AKU, due to deposition of HGA in co...
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ورودعنوان ژورنال:
- Rheumatology
دوره 55 7 شماره
صفحات -
تاریخ انتشار 2016