The c.3274T> C mutation in the CFTR gene results in bronchiectasis and loss of lung function in a 44-year-old Peruvian woman: A very rare condition

Autores/as

DOI:

https://doi.org/10.35839/repis.5.2.1008

Palabras clave:

fibrosis quistica, bronquiectasias, mutacion c.3274T>C

Resumen

La FQ es una enfermedad autosómica recesiva que requiere la presencia de mutaciones en ambos alelos del gen regulador de la conductancia transmembrana de la FQ (CFTR). La mutación c.3274T> C (p.Tyr1092His) no está registrada en la base de datos del “proyecto CFTR2”, pero está registrada en la base de datos de mutaciones de genes humanos. Ademas otras dos mutaciones DNAAF4 c.1177C> T (p.Leu393Phe) y DNAAF5 c.1195G> A (p.Glu399Lys) encontradas en el "Proyecto CFTR", son actualmente inciertas en sus consecuencias clínicas. A continuación, presentamos el caso de una mujer peruana que presenta esta mutación, bronquiectasias y pérdida de función pulmonar y se proporciona una revisión de la literatura.

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Citas

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Publicado

2021-04-09

Cómo citar

1.
Pecho-Silva S, Navarro-Solsol AC. The c.3274T> C mutation in the CFTR gene results in bronchiectasis and loss of lung function in a 44-year-old Peruvian woman: A very rare condition. Rev Peru Investig Salud [Internet]. 9 de abril de 2021 [citado 21 de abril de 2024];5(2):132-5. Disponible en: https://revistas.unheval.edu.pe/index.php/repis/article/view/1008

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