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Fibrosis Quística – Guía Práctica Clínica (GPC)
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La fibrosis quística (FQ) es una enfermedad autosómica recesiva causada por mutaciones en el gen que codifica para la proteína CFTR (cystic fibrosis transmembrane conductance regulator que regula los canales de cloro en la membrana apical de las células epiteliales. Es la enfermedad hereditaria más frecuente en la raza caucásica con serias consecuencias en la expectativa de vida.
Es la afección pulmonar del 85% de la mortalidad. En la mayoría de los casos el defecto principal se localiza en el cromosoma 7, con incidencia en poblaciones del norte de Europa donde representa del 75% al 88% de todas las mutaciones descubiertas. En América Latina la frecuencia de esta mutación también varía drásticamente; en Argentina se acerca al 60%, mientras que en Venezuela y Chile es del 29% y en Colombia del 48%.
En Colombia la tasa de portadores varía según la región geográfica y el grupo étnico, con frecuencias significativamente altas en algunas poblaciones, probablemente como resultado de deriva génica o efecto fundador.
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