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Cystic Fibrosis

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on 3 December 2013

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Transcript of Cystic Fibrosis

What is cystic fibrosis?
CF is a genetically inherited, chronic disease of the secretory glands; affecting the lungs, digestive system, and reproductive organs.
Risk Factors

Both males & females are affected by CF.

The disease is most common among Caucasians of Northern European descent, Latinos, & American Indians.

CF is less common among African Americans & Asian Americans.

Many individuals don't know they are CF carriers.

More than
10 million
Americans are carriers of a mutated CFTR gene
The Signs and Symptoms discussed are a result of Inheritance of defective gene on chromosome 7 that encodes the protein cystic fibrosis transmembrane conductance regulator or CFTR is the cause of CF.

Presentation created by:
Tracie Herrell
Stephanie Roberts

This autosomal recessive condition is the result of both parents carrying mutations of the CFTR gene, causing their offspring to be affected with CF
children and adults in the US
worldwide have CF
new cases of CF are diagnosed each year
of the CF patient population is age 18 or older
of patients are diagnosed by age two
The image shows how CFTR genes are inherited. A person inherits two copies of the CFTR gene—one from each parent. If each parent has a normal CFTR gene and a faulty CFTR gene, each child has:
chance of inheriting two normal genes
chance of inheriting one normal & one faulty gene
chance of inheriting two faulty genes.
Mutations are found at 7q31.2, the long arm (q) of chromosome 7, at position 31.2
Systems Affected by CF
More than 1000 possible changes
can occur in CFTR to cause
The types and severity of complications in patients with CF differ depending on the degree of mutation of CFTR. Some patients do not experience pathological changes in all the systems usually affected by this disease.
Approximately 70% of all patients with CF have the same defect, F508.1; a deletion of 3 bases that causes the loss of the protein phenylalanine.

Damaged CFTR protein , as in CF, stop chloride ions from exiting mucus-producing cells. In normal cells, after chloride leaves the cells, water follows and thins the mucus. As a result of CF, the mucus thickens, becomes sticky, and obstructs the various pathways.

This obstructive process also prevents bacteria from being cleared from the cells, increasing the potential for infection.

CF patients may have iron deficiency anemia as a result of chronic hemoptysis and/or colonization of resistant Pseudomonas aeruginosa. P aeruginosa robs iron from the host for its own growth.

Bleeding often comes from the hypertrophied and tortuous bronchial arteries as a result of chronic inflammation.

Hematopoietic System
With CF the pancreas is often unable to supply adequate amounts of digestive enzymes to the intestine.

Distal intestinal obstruction syndrome (DIOS) is a result of faulty secretion of salt and water from the intestinal epithelium, a situation that causes dehydration of the intestinal material.

CF can also cause gastroesophageal reflux disease due to hypersecretion of gastric acid and hyposecretion of bicarbonate.
Gastrointestinal System
Signs & Symptoms
Diagnostic Tests
Newborn Screening

Sweat Test

Genetic Testing

Chest & Sinus XRay

Lung Function Test

Sputum Culture

CF Carrier Testing

Treatment Overview

The increased work of breathing can include : tachypnea, irregular breathing pattern, diaphoresis, flared nares, pursed lip breathing, intercostal muscle retractions, and use of accessory muscles. Watch O2 given just like with COPD.

CF–related diabetes patients still require a high-energy diet, which is contrary to the diet that others with diabetes mellitus must follow.

Diabetic CF patients may require NS in place of D5 1/4NS when hanging fluids for medication administration.

Compliance takes all family members.
Cystic Fibrosis Foundation. (2010). About cystic fibrosis: What you need to know. Retrieved from
Grossman S, Grossman LC. (2005). Pathophysiology of cystic fibrosis: implications for critical care nurses.
Crit Care Nurse, 25(4), 46-51. Retrieved from http://ccn.aacnjournals.org/content/25/4/46.full.pdf+html
Kluft, J. Beker, L., Castagnino, M., Gaiser, J., Chaney, H., & Fink, R. (1996). A comparison of bronchial
drainage treatments in cystic fibrosis. Pediatric Pulmonology, 22(4), 271-274. DOI: 10.1002/(SICI)1099-0496(199610)22:4<271::AID-PPUL7>3.0.CO;2-P
National Heart, Lung, and Blood Institute. (2011). What is cystic fibrosis? Retrieved from
National Institutes of Health (2013). Cystic Fibrosis. Retrieved from
University of Utah Genetic Science Learning Center. (2013). Cystic fibrosis. Retrieved from
WebMD Medical Reference. (2011). Children’s health: Cystic fibrosis. Retrieved from
Respiratory System
Patients with CF have increased levels of thick, tenacious mucus in their airways.

Decreased CFTR to bind with the bacteria leads to colonization of the airways.

It is hypothesized that altered pH level in the cells of patients with cystic fibrosis leads to increased numbers of asialoGM1 molecules, receptors for bacterial respiratory organisms.
This production of increased levels of thickened mucus can cause inflammation and swelling, obstructing their airways.

The obstruction causes consolidation that leads to pneumonia and respiratory failure.

As obstruction of the airway increases, it becomes more difficult for air to pass during exhalation. This condition leads to expansion of alveoli, where air trapping occurs and, over time, causes the barrel-shaped chest that is also common in patients with emphysema.

Destruction of the pulmonary parenchyma leads to increased pulmonary arterial pressure that, in turn, causes right-sided heart failure or cor pulmonale.
The most common infecting organisms in patients with cystic fibrosis include:

Staphylococcus aureus
Haemophilus influenzae
Pseudomonas aeruginosa

In a few CF patients who have pneumonia, it’s due to
Burkholderia cepacia
, which is
very resistant
to most antibiotics.
CF patients have decreased levels of interleukin-10, a cytokine that has anti-inflammatory properties, predisposing the patients to severe lung inflammation after infection.

Pulmonary inflammation can persists and becomes a chronic inflammatory condition.

Chronic inflammation can cause hypertrophy of the bronchial arteries and hemoptysis.

This life-threatening situation is further exacerbated by coagulopathies often caused by malabsorption of vitamin K and repeated use of some antibiotics.
Because the volume of pancreatic enzymes secreted decreases, the pancreas secretes thick mucus that obstructs the pancreatic ducts and the volume of enzymes that can be secreted becomes even smaller.

This change causes malabsorption of proteins and influences absorption of the fat-soluble vitamins A, D, E, and K.

The distal part of the intestine is commonly dilated and filled with fecal content in patients with CF.

This change is manifested as:
vomiting, abdominal distention, anorexia, pain in the right lower quadrant of the abdomen, and cramping with a decrease or no change in bowel movements.
Postural drainage can exacerbate GERD, as can the negative pressures generated by vigorous coughing common in this patient population.

GERD can also aggravate bronchial reactivity.
Endocrine System
About 13% of all patients who have CF have CF–related diabetes.

Insulin deficiency is due to obstruction of the pancreatic duct.

Hemoglobin A1C is not an accurate diagnostic test for CF–related diabetes because the turnover of red blood cells is more rapid in patients with CF.

Sweat Glands
Because of the decreased levels of the protein CFTR, which helps regulate salt in sweat, patients with cystic fibrosis can experience excessive salt loss from intense heat or even after extreme exercise.

Some patients experience dehydration or heat prostration manifested by lethargy, weakness, and loss of appetite.
Reproductive System
Most men with cystic fibrosis are sterile because
they have no vas deferens or it is malformed.

Women tend to be fertile but often require more time to become pregnant than do women without cystic fibrosis. Mucus plugs in the oviduct and thicker cervical mucus that decreases sperm movement have been detected.

Puberty seems to be delayed for both men and women who have this disease.
All States screen newborns for CF using a genetic test or a blood test. The genetic test shows whether a newborn has faulty CFTR genes. The blood test shows whether a newborn's pancreas is working properly.
This test is the most useful test for diagnosing CF. A sweat test measures the amount of salt in sweat.

For this test, the doctor triggers sweating on a small patch of skin on an arm or leg. He or she rubs the skin with a sweat-producing chemical and then uses an electrode to provide a mild electrical current. This may cause a tingling or warm feeling.

Sweat is collected on a pad or paper and then analyzed. The sweat test usually is done twice. High salt levels confirm a diagnosis of CF.
Genetic tests identify what type of CFTR defect is
causing the patient's CF and it helps doctors structure
the patient's plan of care accordingly.
A chest xray can show inflammation, scarring, infiltrate, and trapped air indicative of CF.

A sinus xray can show signs of sinusitis, also indicative of CF.
Pulmonary function testing is a method that may be helpful in establishing data that will assist in predicting deterioration in clinical status in patients with cystic fibrosis.

One parameter, forced expiratory volume in 1 second (FEV1), is often used as an indicator of deterioration. The lower the FEV1, the more the work of breathing increases; this increase is correlated with further problems in gas exchange.
A sputum culture is collected to see if patient's are colonized with bacteria,
especially Pseudomonas aeruginosa, which is highly indicative of CF.
People who have one normal CFTR gene and one faulty CFTR gene are CF carriers. CF carriers usually have no symptoms of CF and live normal lives.

Carrier testing allows a genetics counselor to test a blood or sputum sample to find out whether individuals have a faulty CF gene.

This type of testing can detect faulty CF genes in 9 out of 10 cases.
Respiratory Therapy

Digestive Therapy


Other Treatments

chest physical therapy and postural drainage (CPT/PD)
high-frequency chest wall oscillation (HFCWO)
breathing exercises (breath out completely)
(such as
), which are used to make breathing easier. They may also make it easier to cough up mucus.
(such as
), which is used to thin mucus in the lungs.
(such as
), to thin mucus in the lungs and also in the intestines. These are not used very much, because they can irritate the lungs.
An inhaled saltwater solution (
hypertonic saline
), is used to help clear mucus from the lungs. It is low-cost, and is thought to help reduce inflammation in the airways.

Digestive enzyme replacement therapy (such as with
), to help the intestines absorb nutrients from food. Enzyme supplements may impair iron absorption. It is recommended that patients with cystic fibrosis take supplements and vitamins separately.

Nutritional therapy to help replace lost nutrients. This may include: taking vitamins, eating high-calorie, high-fat foods, drinking nutritional drinks, getting fed through a G-tube, or receiving intravenous nutrient supplementation (TPN/Lipids).

Preventing intestinal blockages with stool softeners (to avoid constipation) and enemas.

Generic Name (Brand Name)
amoxicillin and clavulanate potassium (Augmentin)
aztreonam (Azactam)
ceftazidime (Fortaz)
ciprofloxacin (Cipro)
gentamicin (Garamycin)
tobramycin (TOBI)
Oxygen therapy
Nasal surgery to remove polyps if present.
Blood transfusion (for gross hemoptysis)
Lung Transplant
Palliative Care (End of Life)
Treatment of CF takes collaboration from every member of the health care team.
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