Video Experimental Relacionado

Updated: Jul 27, 2025

The WinCF Model - An Inexpensive and Tractable Microcosm of a Mucus Plugged Bronchiole to Study the Microbiology of Lung Infections

The WinCF Model - An Inexpensive and Tractable Microcosm of a Mucus Plugged Bronchiole to Study the Microbiology of Lung Infections

Published on: May 8, 2017

La fibrosis quística: una revisión

Thida Ong¹, Bonnie W Ramsey¹

¹Division of Pulmonary and Sleep Medicine, Department of Pediatrics, University of Washington, Seattle Children's Hospital, Seattle.

|June 6, 2023

Resumen

La fibrosis quística (FC) es un trastorno genético que afecta a más de 89.000 personas en todo el mundo. Las nuevas terapias moduladoras de CFTR mejoran significativamente la función pulmonar y reducen las exacerbaciones en pacientes con variantes específicas del gen CFTR.

Área de la Ciencia:

Pulmonología
La genética
Farmacología

Sus antecedentes:

La fibrosis quística (FC) es un trastorno genético causado por variantes del gen CFTR, que afecta a más de 89.000 personas en todo el mundo.
La disfunción de la proteína CFTR conduce a problemas multiorgánicos, particularmente en los pulmones, causando infecciones crónicas y una esperanza de vida reducida.
La variante F508del es prevalente, afectando aproximadamente al 85,5% de los pacientes con FQ en los Estados Unidos, con síntomas que a menudo aparecen en la infancia.

Conclusiones:

Las terapias moduladoras de CFTR, como elexacaftor-tezacaftor-ivacaftor, ofrecen mejoras sustanciales en la función pulmonar y reducen las exacerbaciones pulmonares.
Aproximadamente el 90% de los pacientes con FQ de 2 años o más pueden beneficiarse de estas terapias avanzadas.
La investigación continua y la atención multidisciplinaria son cruciales para el manejo de la FQ y la mejora de los resultados de los pacientes.

Más Videos Relacionados

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study

Published on: April 11, 2018

Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients

Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients

Published on: February 11, 2017

Videos de Conceptos Relacionados

Cystic Fibrosis: Pathogenesis

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...

Cystic Fibrosis: Management

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...

Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies

Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies

Assessing and diagnosing Chronic Obstructive Pulmonary Disease (COPD) involves a detailed approach that includes a comprehensive review of medical history, physical examination, and a variety of diagnostic tests. This thorough evaluation is essential to ensure an accurate diagnosis and guide effective management strategies.
Medical History

Chronic Obstructive Pulmonary Disease-II: Pathophysiology

Chronic Obstructive Pulmonary Disease-II: Pathophysiology

Chronic Obstructive Pulmonary Disease (COPD) pathophysiology is intricate and multifaceted, involving a complex interplay of physiological processes. Understanding these mechanisms is crucial for effectively managing and treating COPD. Here is an in-depth look at the critical elements in the pathophysiology of COPD:
Chronic Inflammation

Chronic Pancreatitis II: Collaborative Care

Chronic Pancreatitis II: Collaborative Care

The management of chronic pancreatitis is multifaceted, involving a comprehensive approach that includes thorough assessment, diagnostic testing, and a variety of management strategies.
Assessment: