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![]() URSU, Diana, TISTOI, Tatiana. Aortic valvulopathy in ochronosis. In: MedEspera: International Medical Congress for Students and Young Doctors, Ed. 8th edition, 24-26 septembrie 2020, Chişinău. Chisinau, Republic of Moldova: 2020, 8, p. 30. ISBN 978-9975-151-11-5. |
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MedEspera 8, 2020 |
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Congresul "International Medical Congress for Students and Young Doctors" 8th edition, Chişinău, Moldova, 24-26 septembrie 2020 | ||||||
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Pag. 30-30 | ||||||
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Background. Ochronosis (alkaptonuria) is a very rare metabolic disease. This pathology has an autosomal recessive transmission and is manifested by the progressive and irreversible impairment of the connective tissue. Alkaptonuria occurs as a result of the innate defect of tyrosine metabolism due to the homogentisic acid oxidase deficiency (enzymopathy), which causes the accumulation of homogentisic acid in the collagen structures of the body. Clinical manifestations of alkaptonuria are homogentisic aciduria, specific staining of conjunctival structures (ochronosis) and arthropathy of large joints. Cardiovascular disorders involving the aortic, mitral valve and coronary arteries in alkaptonuria are less common, and their incidence remains unclear. Case report. In this clinical report, we present the case of a 57-year-old female, with a history of progressive blue pigmentation of the integuments, sclera and auricular cartilages, as well as hyperchromic urine, which the patient reports having it since childhood. Four years ago, the patient had total bilateral hip arthroplasty, and at the moment, presents with clinical signs of severe aortic stenosis and ischemic cardiomyopathy. Conclusions. We will refer to the etiology, pathogenesis, diagnosis and possibilities of treatment during ochronosis discussion. In particular, we will describe the cardiac conditions detected in this case, the intraoperative findings and the results of the surgical treatment performed. |
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Cuvinte-cheie Alkaptonuria, autosomal recessive disease, blue pigmentation, aortic valvulopathy |
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