This NCLEX review is about the hereditary disorder called Cystic Fibrosis.
What is Cystic Fibrosis?
Cystic Fibrosis is a hereditary disorder that affects the function of the exocrine glands. This disease can affect multiple organ systems, including the upper and lower respiratory system, integumentary, digestive, and reproductive systems. The presence of the mutated gene disrupts the normal function of the exocrine glands.
The mutated gene is called the CFTR gene. This stands for cystic fibrosis transmembrane regulator. The CFTR gene is responsible for the production of a protein that channels chloride within the exocrine glands.
A defective CFTR results in increased reabsorption of water and sodium and decreased secretion of chloride. This results in a thicker and stickier instead of a normal, thin, and slippery mucus.
Patients with Cystic Fibrosis show no pulmonary symptoms with normal lung anatomy in utero, during birth, and after birth. Newborns with CF acquire lung infections more frequently compared to normal newborns that incite an inflammatory response.
Cystic Fibrosis may also be caused by environmental factors. Children not diagnosed with CF upon birth may develop an obstruction. This is caused by the introduction of pancreatic enzymes that cause a stricture.
Symptoms of Cystic Fibrosis
Patients with Cystic Fibrosis may develop one of these symptoms:
- Upper sinuses may form polyps that may lead to nasal stuffiness and snoring.
- Airway blockages can lead to obstructive pulmonary disease like emphysema – hyperinflation may occur because of air trapping.
- May lead to rupture and cause pneumothorax.
- Heart failure from prolonged pulmonary hypertension
- Hypoxia may cause clubbing of nails and barrel chest.
- Hemoptysis – coughing up blood due to infection or tissue damage. This is seen more in older patients.
What Happens in a Person With Cystic Fibrosis?
- Susceptibility to lung infections may lead to permanent lung damage.
- Sticky and thick mucus is a perfect environment for bacterias to grow and thrive.
- A risk for resistance or allergic reactions to antibiotics may result in a difficult treatment regimen.
- Gastrointestinal (blockages in a passageway within the body)
- Pancreas – an organ that produces pancreatic enzymes that has a major role in maintaining the body metabolism
- PAL (Protease, Amylase, Lipase) – these enzymes are secreted by the pancreatic duct in the duodenum to aid the digestion of fats, proteins, and vitamins.
- Due to the mucus blockage, these enzymes are not accessible and cannot be secreted from the pancreatic duct. This may lead to inflammation and fibrosis of the pancreas.
Patient not receiving enough pancreatic enzymes may experience:
- weight loss – malabsorption that may cause malnutrition
- delayed puberty
- odorous, greasy stool
- abdominal pain
- Patients will need tube feeding with fat-soluble vitamins and pancreatic enzyme supplements to help with malnutrition.
- Liver – mucus blockage in the biliary duct causes the thickness of the bile. This may cause the formation of gallstones or gallbladder inflammation.
- Distal Intestinal Obstruction Syndrome (DIOS) – production of thick mucus mixed with the stool can cause gut obstruction.
- Meconium Ileus (infants) – thick meconium gets stuck in the ileum of the infants’ intestine. Present in 5% to 10% of newborns.
- In females – due to the overproduction of cervical mucus which is not a friendly environment for the sperm to thrive
- In males – blockage or absence of the vas deferens and other ducts cause sterility in adult men
- Integumentary – overproduction of salt in the sweat glands and salivary glands, causing too salty sweat or tears. Patients will be at risk for electrolyte imbalance and dehydration.
Cystic Fibrosis Statistic and Incidences
- In the US, 1 out of 3,300 is diagnosed with Cystic Fibrosis; 1 out of 16,300 for African American children.
- Females with Cystic Fibrosis showed more deterioration in pulmonary function compared to male patients.
Diagnostic Tests for determination of Cystic Fibrosis
- Sweat Chloride test – Confirmatory test for CF. The test is done with the use of pilocarpine iontophoresis to collect sweat and test for chloride levels.
- Noninvasive CFTR analysis – Recovering DNA from cells through buccal brushing. This can be used to check the carrier status of the parents of a fetus diagnosed with Meconium Ileus.
- Restriction fragment length polymorphism analysis – This is used to test if either one or neither of the parents is a CF carrier but had a previous child with CF. Testing can be done on siblings, parents, or fetuses.
- Newborn Screening – It is universally required to test newborns for CF.
- Radiography – Chest PA may show initial symptoms like peribronchial thickening and hyperinflation.
- Genotyping – This is recommended for couples planning a pregnancy with a family history of CF.
Management of Patients with Cystic Fibrosis
- Diet – Patients with CF are recommended to have a normal diet with unrestricted fat intake. Addition of fat-soluble vitamins and minerals to the patients’ diet. This is to compensate for the increased energy demand from chronic inflammation and malabsorption. (Looking for more study materials on NCLEX diets? Check out these 46 NCLEX Diets You Need to Know in Memes.)
- Monitoring – Patients with Cystic Fibrosis are recommended a follow-up check-up every 2-3 months for checking nutritional status or manifestation of symptoms
- Exercise – Regular exercise will increase patients’ physical fitness and respiratory muscle endurance
- Vaccines – Routine vaccination for diseases prone to patients with cystic fibrosis. Ex. Influenza
Nursing Interventions and Treatments for Cystic Fibrosis
Focus: Nutrition, Treatment of Infection and Prevention of Blockages in the GI system
Most common medications received by patients with CF
- Pancreatic Enzymes – to aid digestion of fats, vitamins, and proteins
- Vitamins – due to malabsorption, these are added to a patient’s diet especially fat-soluble vitamins
- Antibiotics – antibiotic therapy for patients with pulmonary infections
- Stool Softeners – to avoid intestinal blockage
- Anti-inflammatory – aids to reduce the inflammation of ducts due to the mucus accumulation
- Mucolytics (nebulizer or oral) – such as dornase alfa, aids in the hydrolysis of DNA to improve airway clearance for patients with CF
- Bronchodilators (inhaled or oral) – Mostly used in children diagnosed with CF. Must be evaluated and tested first to avoid counterproductive effects in children.
Points to Remember
- Cystic Fibrosis is an autosomal recessive disease that affects the exocrine glands.
- Mutation in the CFTR gene causes the disease.
- The principal cause of death for patients with Cystic Fibrosis is end-stage lung disease.
- The sweat test is used as a screening test for Cystic Fibrosis.
- Pilocarpine Iontophoresis is used in sweat tests.
- Patients with CF are needed to be monitored every 2-3 months to manage the disease properly.