Cystic Fibrosis

What is cystic fibrosis?

Cystic fibrosis (CF) is a genetic disorder that affects the exocrine glands, leading to the production of thick, sticky mucus.

Cystic fibrosis is caused by mutations in the?

caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene

What is the CFTR Protein?

Cystic Fibrosis Transmembrane protein, which is an ion channel protein

what are the symptoms of cystic fibrosis?

- salty tasting skin

- persistent cough with thick mucus

- frequent lung infections

- wheezing or shortness of breath

- steatorrhea

What is steatorrhea

fatty stools

LABORATORY AND DIAGNOSTIC TEST for cystic fibrosis?

- Sweat Chloride Test (gold standard)

- CFTR genetic testing (for confirmation)

- Immunoreactive Typsinogen (IRT) (for screening)

What is Sweat Chloride Test?

Gold Standard for Diagnosis of cystic fibrosis and it measures the amount of chloride (salt) in sweat (> 60 mmol)

What is CFTR genetic testing?

Identifies mutations in the CFTR gene to confirm CF.

Surgical Management for cystic fibrosis?

- Lung Transplant (for end-stage CF)

- Sinus Surgery (to remove mucus buildup)

Medical Management for cystic fibrosis?

- bronchodilators

- mucolytics

- Pancreatic Enzyme Replacement Therapy

What are bronchodilators and examples?

Open airways and ease breathing (Albuterol, Salmeterol)

What are mucolytics and examples?

Break down thick mucus for easier clearance (Dornase Alfa [Pulmozyme], Hypertonic Saline)

NURSING RESPONSIBILITIES for cystic fibrosis?

- Assess Respiratory Status

- Assess Nutritional Status

Nursing Diagnosis for cystic fibrosis?

Ineffective Airway Clearance r/t thick mucus secretions