Cystic Fibrosis Overview and Management

This set of flashcards covers key vocabulary and concepts related to cystic fibrosis, its pathophysiology, complications, diagnostic evaluations, and management strategies.

Cystic Fibrosis

An inherited, autosomal recessive genetic disorder caused by mutations in the CFTR gene on chromosome 7.

CFTR Protein

Cystic fibrosis transmembrane conductance regulator, a protein that functions as a chloride channel in epithelial cells.

Meconium Ileus

A classic early sign of cystic fibrosis in newborns, where the small intestine is blocked with thick, putty-like meconium.

Steatorrhea

Bulky, frothy stools resulting from undigested fat due to pancreatic enzyme deficiency in cystic fibrosis.

Cystic Fibrosis–Related Diabetes (CFRD)

The most common complication of cystic fibrosis, characterized by severe insulin deficiency and fluctuating insulin resistance.

Therapeutic Management

Includes nutrition, medications, and airway clearance techniques to manage pulmonary and gastrointestinal problems in cystic fibrosis patients.

Sweat Chloride Test

A gold standard diagnostic test for cystic fibrosis measuring elevated levels of sodium and chloride in sweat.

Pulmonary Management

Goals include preventing and treating infections, improving ventilation, and removing thick secretions in cystic fibrosis patients.

Airway Clearance Techniques (ACTs)

Methods such as percussion, postural drainage, and various devices used to help clear mucus from the airways in cystic fibrosis.

Nutritional Support

High-calorie, high-protein diet often required for cystic fibrosis patients to compensate for malabsorption and increased energy needs.

Genetic Counseling

A process to inform and prepare families about carrier status and options for prenatal testing for cystic fibrosis.