نتایج جستجو برای: alkaptonuria
تعداد نتایج: 375 فیلتر نتایج به سال:
Alkaptonuria ochronosis is a rare metabolic disease in which the body does not have enough enzyme called homogentisic acid oxidase. Due to the homogentisic acid oxidase deficiency, homogentisic acid accumulates in cartilage and connective tissues which leads to ochronotic arthritis. We reported a case of bilateral ochronotic arthritis verified by clinical presentation, imaging, arthroscopic and...
Alkaptonuria (AKU) is an extremely rare autosomal recessive metabolic disorder characterized by a triad of homogentisic aciduria, arthritis, and ochronosis, affecting only 2–5 in a million individuals.[1] The management of AKU is usually symptomatic. However, surgical intervention necessitates in cases of significant arthritis. Here, we presented a 64‐year‐old female who underwent bilateral tot...
BACKGROUND Alkaptonuria (AKU) is an inborn error of catabolism due to a deficient activity of homogentisate 1,2-dioxygenase. Patients suffer from a severe arthropathy, cardiovascular and kidney disease but other organs are affected, too. We found secondary amyloidosis as a life-threatening complication in AKU, thus opening new perspectives for its treatment. We proved that methotrexate and anti...
Âlkaptonuria is a very rare hereditary disease with the liver enzyme homogentisic oxidase deficiency which is the result of accumulation of homogentisic acid in tissues along with excretion in urine in large quantities. Ôchronosis is clinical expression of alkaptonuria with the symptoms on the visceral organ, articular and connective tissues. The patient was a middle-aged man with prolo...
A 63-year-old man bearing most signs and symptoms (facial pigmentation, degenerative arthritis, and dark urine) pertinent to his known history of alkaptonuria underwent aortic valve replacement for critical aortic stenosis. Although rare, aortic stenosis is the most common cardiac manifestation of alkaptonuric ochronosis.
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