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      Osteoesclerosis axiales. Propuesta para una nueva aproximación diagnóstica Translated title: Axial osteoesclerosis. Proposal for a new diagnostic approach

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          Abstract

          Las enfermedades osteoesclerosantes que comprometen el esqueleto axial son un grupo de enfermedades poco frecuentes que se caracterizan por aumento en la densidad ósea, producto de alteraciones primarias en la osificación endocondral o membranosa. En este artículo, realizamos un análisis crítico de la clasificación de las osteoesclerosis axiales y proponemos una nueva clasificación con el objetivo de simplificar el abordaje de estas patologías. Así mismo, describimos las características clínicas, radiológicas y de laboratorio que permiten hacer su diagnóstico diferencial.

          Translated abstract

          Osteosclerosant diseases with axial involvement are a rare group of disorders characterized by a high bone mineral density secondary to impairment in the endochondral and membranous bone formation process. In this article, we analyzed the current classification of these diseases and propose a new and simple approach. In addition, we describe the main radiologic, laboratory and clinical keys to arrive to the differential diagnosis.

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          Most cited references13

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          A clinical and molecular overview of the human osteopetroses.

          The osteopetroses are a heterogeneous group of bone remodeling disorders characterized by an increase in bone density due to a defect in osteoclastic bone resorption. In humans, several types can be distinguished and a classification has been made based on their mode of inheritance, age of onset, severity, and associated clinical symptoms. The best-known forms of osteopetrosis are the malignant and intermediate autosomal recessive forms and the milder autosomal dominant subtypes. In addition to these forms, a restricted number of cases have been reported in which additional clinical features unrelated to the increased bone mass occur. During the last years, molecular genetic studies have resulted in the identification of several disease-causing gene mutations. Thus far, all genes associated with a human osteopetrosis encode proteins that participate in the functioning of the differentiated osteoclast. This contributed substantially to the understanding of osteoclast functioning and the pathogenesis of the human osteopetroses and will provide deeper insights into the molecular pathways involved in other bone pathologies, including osteoporosis.
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            A nomenclature for constitutional disorders of bone.

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              The syndromic status of sclerosteosis and van Buchem disease.

              We have examined 50 persons with sclerosteosis in the Afrikaner community of South Africa and 15 individuals with van Buchem disease in Holland. The clinical and radiographic manifestations of these conditions are very similar, the only notable differences being greater severity and syndactyly in the majority of the patients with sclerosteosis. The Afrikaners have Dutch antecedants and it seems likely that these autosomal recessive disorders result from homozygosity of the same faulty genes. The phenotypic variation may be due to the epistatic effect of modifying genes in the Afrikaner population.
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                Author and article information

                Journal
                rcre
                Revista Colombiana de Reumatología
                Rev.Colomb.Reumatol.
                Asociación Colombiana de Reumatología (Bogotá, Distrito Capital, Colombia )
                0121-8123
                January 2007
                : 14
                : 1
                : 44-53
                Affiliations
                [02] México orgnameUnidad de diagnóstico de Osteoporosis
                [01] orgnameUniversidad Nacional de Colombia orgdiv1Facultad de Medicina
                Article
                S0121-81232007000100005 S0121-8123(07)01400105
                14815dcc-fc3a-413e-a17a-44676326e07d

                This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 14, Pages: 10
                Product

                SciELO Colombia

                Categories
                Artículos de Reflexión

                osteoesclerosis axiales,axial osteosclerosis,osteosclerosant diseases,enfermedades osteoesclerosantes

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