ALCAPTONURIA ARTICULOS PDF

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We present the case of a year-old patient suffering from obesity, hypertension, and dyslipidaemia who was admitted to the heart surgery department of our institute on October 28, , with a diagnosis of severe aortic stenosis and coronary heart disease. These diagnoses had been established 11 months before due to the incidental finding of a heart murmur while performing transthoracic and transoesophageal echocardiograms. The diagnosis was severe aortic stenosis aortic valve peak gradient of 68, average of 46 and 0.

At the time of surgery, we did not suspect alkaptonuria in our patient, but the surgical findings revealed partial fusion and calcification of the aortic valve flaps. Also, blackish pigmentation of the aorta and the coronary arteries was observed Figure 1.

We proceeded to replace the valve with a number 21 mechanical prosthesis and two bypass aortocoronaries left internal mammary artery to descending artery and internal saphenous vein to the marginal one. Figure 1. Internal black discoloration of the aorta and scleral pigmentation of the right eye. Given this unusual finding, we researched the possible causes and conducted a more thorough case history review. The patient said he had had arthralgia in the shoulders, spine, hips and knees for the past 20 years.

A physical examination showed stiffness and crepitus on the shoulders, hips and knees as well as blackish pigmentation in the sclerae Figure 1. X-rays of the spine, shoulders and hips revealed lumbar spondyloarthrosis, coxarthrosis, gonarthrosis, and shoulder osteoarthritis. The patient's urine was collected, which turned blackish after 24 hours of contact with light and the environment, a common occurence with alkaptonuria Figure 2.

Furthermore, homogentisic acid was detected in the urine. Lastly, a histological study of the aortic flaps showed hyaline degeneration, fibrosis, calcification and dark brown pigmentation of the edges of the valves. Figure 2. Patient's urine changed colour after 24 hours of exposure to the environment. Alkaptonuria is a rare disease that is transmitted with an autosomal recessive pattern, with a frequency of 1 case per inhabitants.

It is a tyrosine metabolism disorder in which homogentisic acid oxidase deficiency causes the excretion of large quantities of this acid in the urine and the accumulation of its oxidised pigment in the connective tissues a disorder known as ochronosis. Apart from these disorders, pigmentation can occur in the heart valves, larynx, tympanic membranes and skin.

Some patients also develop kidney or prostate stones. Although we did not find any study in our literature search that related aortic stenosis or coronary heart disease with alkaptonuria, various cases have been published in which these conditions occurred in the same patient.

The association between alkaptonuria and aortic valve disease has been postulated and it has also been reported that this valve is the most affected by this condition, followed by the mitral and the pulmonary valves. Aortic stenosis is the most commonly associated disease, although it has also been linked to aortic and mitral regurgitation. Electron microscopy studies of a patient with alkaptonuria and aortic stenosis showed changes consistent with valve cell death associated with homogentisic acid deposition.

The authors concluded that the intracellular deposit of pigment caused the death of these cells and probably produced dystrophic calcification with consequent valvular stenosis. Case Report. Descargar PDF. Texto completo. Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture.

A case report and literature review.. Clin Med Res, 2 , pp. N Engl J Med, , pp. Clinical, radiographic and echocardiographic findings in a patient with ochronosis.. Clin Rheumatol, 17 , pp. J Thorac Cardiovasc Surg, 72 , pp. Aortic stenosis and coronary artery disease caused by alkaptonuria, a rare genetic metabolic syndrome.. Cardiology, 90 , pp. Arch Path Lab Med, , pp. ST-segment elevation acute myocardial infarction Are you a health professional able to prescribe or dispense drugs?

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It was created in December with the purpose of disseminating scientific information derived from primary and secondary research and presenting cases coming from the practice of Rheumatology in Latin America. Since its foundation, the Journal has been characterized by its plurality with subjects of all rheumatic and osteomuscular pathologies, in the form of original articles, historical articles, economic evaluations, and articles of reflection and education in Medicine. It covers an extensive area of topics ranging from the broad spectrum of the clinical aspects of rheumatology and related areas in autoimmunity both in pediatric and adult pathologies , to aspects of basic sciences. It is an academic tool for the different members of the academic and scientific community at their different levels of training, from undergraduate to post-doctoral degrees, managing to integrate all actors inter-and transdisciplinarily. It is intended for rheumatologists, general internists, specialists in related areas, and general practitioners in the country and abroad.

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In the year has been indexed in the Medlinedatabase, and has become a vehicle for expressing the most current Spanish medicine and modern. All articles are subjected to a rigorous process of revision in pairs, and careful editing for literary and scientific style. CiteScore measures average citations received per document published. Read more. SRJ is a prestige metric based on the idea that not all citations are the same.

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In the year has been indexed in the Medlinedatabase, and has become a vehicle for expressing the most current Spanish medicine and modern. All articles are subjected to a rigorous process of revision in pairs, and careful editing for literary and scientific style. CiteScore measures average citations received per document published. Read more. SRJ is a prestige metric based on the idea that not all citations are the same. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal's impact. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field.

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