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Enfermedad renal policística autosómica dominante y dominante
Vicente E Torres1, Peter C Harris1, Yves Pirson2
1Mayo Clinic College of Medicine, Rochester, MN, USA.
Lancet (London, England)
|April 17, 2007
Resumen
La enfermedad renal poliquística autosómica dominante (ADPKD) es un trastorno genético común con síntomas variables debido a factores genéticos. La investigación de sus mecanismos está allanando el camino para nuevos tratamientos.
Área de la Ciencia:
- Nefrología Nefrología.
- Genética La genética.
- Biología Molecular Biología Molecular
Sus antecedentes:
- La enfermedad renal poliquística autosómica dominante (ADPKD) es el trastorno de un solo gen más común y potencialmente mortal.
- Se observa una significativa variabilidad interfamiliar e intrafamiliar en la presentación de la ADPKD.
- La heterogeneidad genética y los genes modificadores contribuyen a esta variabilidad.
Objetivo del estudio:
- Explorar los fundamentos genéticos y moleculares de la ADPKD.
- Comprender la progresión y los efectos sistémicos de la ADPKD.
- Establecer una base para desarrollar ensayos clínicos y tratamientos para ADPKD.
Principales métodos:
- Revisión de la literatura existente sobre la genética y los mecanismos de la ADPKD.
- Análisis de la heterogeneidad genética y los efectos de los genes modificadores.
- Evaluación de las vías moleculares y celulares involucradas en ADPKD.
Principales resultados:
- La ADPKD exhibe una heterogeneidad genética significativa.
- Los genes modificadores juegan un papel crucial en la variabilidad de la enfermedad.
- La comprensión de los mecanismos de la enfermedad está avanzando.
Conclusiones:
- Es fundamental un mayor conocimiento de la base genética y molecular de la ADPKD.
- La apreciación de la progresión y las manifestaciones de la enfermedad informa las estrategias de tratamiento.
- Esta comprensión fundamental apoya el desarrollo de nuevas intervenciones terapéuticas para ADPKD.
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