title: [Implications of the new etiophatogenic approach in the classification of constitutional and genetic bone diseases].
abstract: Recent years have seen an unprecedented increase in the knowledge and understanding of biochemical disturbances involved on constitutional bone disorders. Recognition of the genetic background as the common cause of these diseases prompted the substitution of the term «constitutional» by «genetic», in referring to them. Understanding physiopathological bases by finding out the altered metabolic pathways as well as their regulatory and control systems, favours an earlier and more accurate diagnosis based on interdisciplinary collaboration. Although clinical and radiological assessment remains crucial in the study of these disorders, ever more often the diagnosis is achieved by molecular and genetic analysis. Elucidation of the damaged underlying molecular mechanisms offers targets potentially useful for therapeutic research in these complex and often disabling diseases.
authors.affiliation: Instituto de Investigación de Enfermedades Raras, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, España. amorales@isciii.es
authors.forename: Antonio
authors.initials: A
authors.lastname: Morales Piga
authors.forename: Verónica
authors.initials: V
authors.lastname: Alonso Ferreira
authors.forename: Ana
authors.initials: A
authors.lastname: Villaverde-Hueso
mesh_terms: D001847:Bone Diseases / Q000145:classification* / Q000235:genetics*; D006801:Humans