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Cystic fibrosis: current concepts.

Jaime A López-Valdez¹, Luis A Aguilar-Alonso¹, Vanessa Gándara-Quezada¹

¹Centro de Ciencias de la Salud, Universidad Autónoma de Aguascalientes, Aguascalientes, Aguascalientes, Mexico.

Boletin Medico Del Hospital Infantil De Mexico

|December 22, 2021

Summary

Cystic fibrosis is a genetic disease caused by CFTR gene variants, leading to mucus buildup and organ damage. Management focuses on airway clearance, infection prevention, and nutritional support, with developing therapies targeting CFTR gene correction.

Keywords:

CFTR gene Cystic fibrosis Fibrosis quística Gen CFTR Gene therapy Terapia génica

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Area of Science:

Genetics
Pulmonology
Biochemistry

Background:

Cystic fibrosis is an autosomal recessive genetic disorder primarily affecting Caucasian children and young adults.
Pathogenic variants in the CFTR gene lead to increased mucus viscosity and impaired clearance, affecting multiple organs including lungs and pancreas.
Clinical manifestations are diverse, ranging from pulmonary obstructive disease to gastrointestinal issues.

Purpose of the Study:

To provide a comprehensive overview of cystic fibrosis, encompassing its genetic basis, clinical presentation, and management strategies.
To highlight current therapeutic approaches and emerging treatments aimed at correcting CFTR gene dysfunction.
To emphasize the importance of integrated diagnosis and multi-faceted management.

Main Methods:

Review of existing literature on cystic fibrosis genetics, pathophysiology, and clinical management.
Analysis of diagnostic criteria and therapeutic strategies, including current and investigational treatments.
Synthesis of information on CFTR gene variants and their impact on disease presentation and progression.

Main Results:

Identification of pathogenic CFTR gene variants as the root cause of cystic fibrosis.
Description of the multi-organ system involvement and varied clinical manifestations.
Outlining of the three core management strategies: airway secretion clearance, infection control, and nutritional support.

Conclusions:

Integrated diagnosis through CFTR gene variant detection is crucial.
Current management focuses on symptom control and supportive care.
Future therapies aim to directly address the underlying CFTR gene defect, including gene therapy and genome editing.