Posted in Pediatrics

Cystic fibrosis (often abbreviated as CF) is an autosomal recessive disease that results when a gene that encodes for a specific protein is defective. This protein functions as a chloride channel in the epithelium, affecting individuals in multiple ways and ranges of severity. The most commonly affected body systems are the respiratory system, the pancreas and GI tract, and the reproductive organs.

Note that cystic fibrosis is commonly taught as part of your pediatrics course since that is when it is usually diagnosed. However, with treatment and careful management, these individuals can live into adulthood. The Cystic Fibrosis Foundation states that individuals born between 2014 and 2018 have a life expectancy of 44 years, which is an improvement but still heartbreakingly low. However, a promising new medication could potentially extend life expectancy for cystic fibrosis patients (more on this below).

Cystic Fibrosis Pathophysiology
In cystic fibrosis, chloride channels don’t function properly, which leads to a disruption in the sodium-chloride levels in the body’s epithelial mucosal surfaces. The cell surfaces become dehydrated and secrete thick, viscous mucus that can cause scarring at the organ level and even lead to organ failure. Let’s take a look at how these mucus plugs affect the most commonly targeted organs in cystic fibrosis:

  • In the pancreas, mucus plugs clog the pancreatic ducts and prevent pancreatic enzymes from reaching the intestine. This leads to malabsorption of nutrients and failure-to-thrive (FTT). It can also damage beta islet cells, leading to cystic fibrosis related diabetes (CFRD). Common complications you’ll see with your CF patients include pancreatitis, cholelithiasis and cirrhosis.
  • In the respiratory tract, mucus plugs block airways, impair gas exchange and put the individual at high risk for respiratory infection. Ninety percent of patients with CF will have some degree of pulmonary involvement. Significant complications that can occur are pneumothorax, significant hemoptysis and pulmonary hypertension.
  • In the male reproductive system, mucus can block the vas deferens which impedes the passage of sperm.
  • In the female reproductive system, thickening of cervical mucus can make it challenging for sperm cells to reach the egg. Additionally, the nutritional deficiencies and respiratory abnormalities associated with CF can also lead to irregular ovulation.

Now that you have a basic understanding of cystic fibrosis, let’s go through the key points using the Straight A Nursing LATTE method.

L: How does the patient LOOK?

  • Many of the signs and symptoms of a patient with CF are related to respiratory malfunction. These include:
    • Adventitious lung sounds: wheezes, rhonchi, persistent crackles
    • Excessive mucus production
    • Persistent cough
    • Increased WOB, may have accessory muscle use
    • Barrel chest due to air trapping
    • Clubbing of the fingers due to chronic hypoxemia
    • In later stages of the disease, the individual may have pulmonary hypertension which can result in right sided heart failure
  • Gastrointestinal symptoms include:
    • Lack of appetite, loss of taste
    • Abdominal pain
    • Flatulence, loose and fatty stools
    • Abdominal distention
    • Rectal prolapse
  • Other signs and symptoms include:
    • Weight loss, malnutrition and failure-to-thrive
    • Salty-tasting skin (Parents may report their baby tasting salty when they kiss them; this is due to sodium not being able to move normally through the cells that line the sweat ducts. The result is exceptionally salty sweat and is often one of the first things parents notice.)
    • Restlessness, often due to hypoxia or abdominal pain

A: How do you ASSESS the patient?

  • Full set of VS, with special attention to the RR and SpO2
  • Assess quality and amount of sputum, making note of the individual’s ability to keep the airway clear or any signs of respiratory distress
  • Assess lung sounds
  • Assess nutritional status, including weight
  • Assess elimination habits as the stools with CF tend to be frequent, fatty and foul-smelling
  • Abdominal pain assessment if GI involvement is present
  • Especially in children, assess coping mechanisms as frequent hospitalizations and social isolation are common
  • Assess activity intolerance, as the patient may become fatigued with activity, even eating.

T: What TESTS will be ordered for a patient with cystic fibrosis?

  • Diagnostic tests and screening typically occur before the child reaches 12 months of age. However, because the severity of the disease can vary greatly, it’s not unheard of for a diagnosis to be made at an older age.
  • The “sweat test” is the quantitative pilocarpine iontophoresis test (QPIT), and is the gold standard for diagnosing CF. This test involves analyzing the patient’s sweat, which will typically show nearly four times the normal amount of sodium and chloride. A value above 60 mmol/L is considered positive for CF.
  • Newborn screening involves assessing the level of immunoreactive trypsinogen (IRT), which is a pancreatic protein that can be elevated in infants with CF. The test involves obtaining a small sample of blood from the infant’s heel and placing it on a special card (Guthrie card).
  • Imaging studies can aid in the diagnosis of CF. These include chest x-ray, abdominal x-ray and abdominal ultrasound.
  • Genetic testing is recommended for those with a positive family history of CF and are planning to become pregnant.
  • Arterial blood gas (ABG) may be obtained to determine if the individual has adequate gas exchange.
  • Pulmonary function tests can tell us about the individual’s lung capacity and how well air flows in and out of the lungs. PFTs are not conducted on children younger than five or six years old.
  • CBC and sputum cultures will be conducted when infection is suspected.

T: What TREATMENTS will be provided for a patient with cystic fibrosis?

It’s important to note that there is no cure for CF and treatment is focused on managing symptoms related to malnutrition, impaired gas exchange, and infections.

  • Treatments addressing malnutrition and sodium imbalance:
    • Pancreatic enzyme supplements (amylase and/or lipase)
    • Fat soluble vitamins; individuals with CF often have difficulty digesting and absorbing fat
    • Increased sodium intake, especially during hot weather and exercise
    • Calcium supplement, especially if pancreatic insufficiency is present
    • Increased calories, which can come from a well-balanced diet, or may need to be provided with nutritional supplements such as Encala
  • Treatments addressing respiratory symptoms:
    • Medications include bronchodilators, mucolytics, antibiotics, anti-inflammatory medications.
      • Trikafta is a newer medication used in patients six years and older who have specific gene mutations. A study showed that in individuals 12 years and older, lung function improved by 13.8%. Additionally, study participants had significantly fewer pulmonary exacerbations and hospitalizations. You can learn more about this promising therapy here.
    • Chest physiotherapy – Best done before meals to reduce risk of emesis. Involves both percussion and vibration. Can be very fatiguing for the patient and provider of therapy, so allow adequate time for rest.
    • Postural drainage – Typically involves alternating lying on the left and ride side as well as prone and trendelenburg positions; often used in coordination with chest physiotherapy.
    • Huff coughing can help mobilize and remove thick secretions.
    • PEEP may be utilized in severe cases to help alveoli to open and improve gas exchange.
    • Lung transplant is warranted when the respiratory involvement is significant.

E: How do you EDUCATE the patient and/or caregiver?

  • Teach the caregiver how to perform CPT and postural drainage.
  • Teach the patient or caregiver about nutritional needs such as increased calories and fat, increased salt intake, and vitamin supplementation.
  • If the individual has cystic fibrosis related diabetes (CFRD), provide teaching specific to diabetes.
  • Teach the patient and caregiver that delayed development can occur, especially as the patient approaches ‘normal’ puberty age.
  • Teach the patient and caregiver that special care must be taken to avoid infection. Basic guidelines are frequent hand hygiene, avoiding being around ill individuals, maintaining a distance of six feet from other individuals with cystic fibrosis, covering coughs and receiving all recommended vaccinations.
  • Teach patients and caregivers about resources that are available; an excellent place to start is the Cystic Fibrosis Foundation.

So there you have it… your basic introduction to caring for patients with cystic fibrosis.

TL;DR
CF is a disease resulting from a genetic mutation that often presents as respiratory and gastrointestinal abnormalities
Children are often diagnosed after the parent reports the baby “tastes salty” when kissed
The individual with CF will produce excessively thick mucus that plugs airways and impairs organ function
Treatments involve pancreatic enzymes, respiratory medications, chest physiotherapy and avoidance of infection

____________________________________________________________

The information, including but not limited to, audio, video, text, and graphics contained on this website are for educational purposes only. No content on this website is intended to guide nursing practice and does not supersede any individual healthcare provider’s scope of practice or any nursing school curriculum. Additionally, no content on this website is intended to be a substitute for professional medical advice, diagnosis or treatment.

 

References:
Brown, D., Edwards, H., Buckley, T., & Aitken, R. L. (2020). Lewis’s medical-surgical nursing: Assessment and management of clinical problems.

Capriotti, T., & Frizzell, J. P. (2016). Pathophysiology: Introductory concepts and clinical perspectives. F.A. Davis Company.

Cystic Fibrosis Foundation. (n.d.). Basics of postural drainage and percussion. Cystic Fibrosis Foundation. https://www.cff.org/Life-With-CF/Treatments-and-Therapies/Airway-Clearance/Basics-of-Postural-Drainage-and-Percussion/

Gersch, C. J., Heimgartner, N. M., & Rebar, C. R. (2018). Pathophysiology made incredibly easy! (6th ed.). Lippincott Williams & Wilkins/Wolters Kluwer.

Johns Pool, J. (2019a, September). Salty skin and sweat. Cystic-Fibrosis.Com. https://cystic-fibrosis.com/symptoms/salty-skin

Johns Pool, J. (2019b, September). What are pulmonary function tests? Cystic-Fibrosis.Com. https://cystic-fibrosis.com/pulmonary-function-tests

Khattar, V. (n.d.). Reproductive system symptoms. Cystic Fibrosis News Today. https://cysticfibrosisnewstoday.com/reproductive-system-symptoms/

Lab Tests Online. (2020, June 5). Immunoreactive trypsinogen (IRT). Lab Tests Online. https://labtestsonline.org/tests/immunoreactive-trypsinogen-irt

Potter, P. A., Perry, A. G., Stockert, P. A., & Hall, A. (2021). Fundamentals of nursing.
Reed, M. (2020, January). Cystic fibrosis and nutrition. Nemours KidsHealth. https://kidshealth.org/en/parents/cf-nutrition.html

Tabori, H., Arnold, C., Jaudszus, A., Mentzel, H.-J., Renz, D. M., Reinsch, S., Lorenz, M., Michl, R., Gerber, A., Lehmann, T., & Mainz, J. G. (2017). Abdominal symptoms in cystic fibrosis and their relation to genotype, history, clinical and laboratory findings. PLoS ONE, 12(5), e0174463. https://doi.org/10.1371/journal.pone.0174463