Article information
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.
Keywords:
Molecular alterations
Bone genetic diseases
Osteochondrodysplasia
Resumen
El avance en el conocimiento de las alteraciones bioquímicas que causan las enfermedades constitucionales óseas no tiene precedentes. La constatación de que su característica esencial es el trasfondo genético común a todas ellas ha dado lugar a una propuesta de alcance: sustituir el término «constitucionales» por «genéticas» para referirse a estas entidades. La comprensión de los mecanismos fisiopatológicos implicados, identificando el punto exacto de la vía metabólica alterada y sus sistemas de regulación y control, facilita realizar un diagnóstico preciso, basado en la colaboración interdisciplinar, en un tiempo muy inferior del que requería el enfoque tradicional. Además, aunque la correcta valoración de las manifestaciones clínicas y radiológicas sigue siendo crucial, el diagnóstico de certeza se basa cada vez con mayor frecuencia en la aplicación de las nuevas técnicas de análisis genético y molecular. Por último, el esclarecimiento de las complejas alteraciones subyacentes a estos trastornos descubre unas dianas moleculares de gran utilidad potencial en la investigación terapéutica de unas enfermedades que a menudo limitan de manera notable la calidad de vida y que, casi sin excepciones, todavía carecen de un tratamiento eficaz.
Palabras clave:
Alteraciones moleculares
Enfermedades óseas genéticas
Osteocondrodisplasias
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