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3849+10 kb C-->T mutación y gravedad de la enfermedad en la fibrosis quística
R C Stern1, C F Doershuk, M L Drumm
1Leroy W Matthews Cystic Fibrosis Center, Department of Pediatrics, Case Western Reserve University, Cleveland, OH, USA.
Lancet (London, England)
|July 29, 1995
Resumen
Los pacientes con fibrosis quística (FC) con la mutación de empalme C-->T de 3849 + 10 kb muestran una gravedad de la enfermedad variada. Esta mutación puede conducir a problemas pulmonares y pancreáticos menos graves y retrasados, pero la enfermedad del tracto genital puede progresar.
Área de la Ciencia:
- Genética médica La genética médica.
- Pulmonología Pulmonología.
- La Medicina Reproductiva es una de ellas.
Sus antecedentes:
- La fibrosis quística (FQ) a menudo es causada por la mutación delta F508, pero existen otras mutaciones.
- La mutación de empalme C->T de 3849 + 10 kb está asociada con fenotipos de FQ más leves.
- Comprender las correlaciones genotipo-fenotipo es crucial para el manejo de pacientes con FQ.
Objetivo del estudio:
- Para investigar la presentación clínica de diez pacientes con fibrosis quística hemizígo para la mutación de empalme C-->T de 3849 + 10 kb.
- Para explorar la relación entre esta mutación de empalme y la gravedad de la enfermedad específica del órgano.
- Evaluar el potencial de enfermedad progresiva del tracto genital e informar sobre el asesoramiento reproductivo.
Principales métodos:
- Serie de casos de diez pacientes con fibrosis quística.
- Evaluación clínica de la función pancreática, la progresión de la enfermedad pulmonar y los niveles de cloruro en el sudor.
- Evaluación del estado reproductivo masculino, incluyendo el recuento de espermatozoides y la apariencia del tracto genital.
Principales resultados:
- Todos los pacientes tenían una función pancreática exocrina adecuada.
- La aparición de la enfermedad pulmonar se retrasó (mediana de 9 años), pero la gravedad varió, con algunos progresando a enfermedad grave, muerte o trasplante.
- Los pacientes varones mostraron recuentos de espermatozoides variables, y se observó alguna evidencia de enfermedad progresiva del tracto genital. Los niveles de cloruro de sudor estaban en su mayoría en el rango intermedio.
Conclusiones:
- La mutación de empalme C-->T de 3849 + 10 kb en pacientes con FQ puede conducir a una disociación de la gravedad genética entre órganos.
- Las manifestaciones del tracto pulmonar y genital pueden seguir diferentes patrones de progresión.
- Se debe considerar el almacenamiento de esperma en pacientes masculinos con esta mutación debido a la potencial infertilidad progresiva.
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