MED/SURG

CYSTIC FIBROSIS
Introduction
Cystic fibrosis (CF) is the most common life-limiting inherited disease among
white people. It affects about 1 in 2,500 live births in the UK and is inherited in an
autosomal recessive manner. About 10,000 people in the UK have cystic fibrosis
and 1 in 25 of the population is a carrier of the disease
Individuals with CF must inherit one CF gene from each parent. More than 1,000
genetic mutations have been identified in CF, creating the innumerable variations
in the clinical progression seen in this disease.
Definition
Cystic fibrosis (CF) is an inherited, autosomal recessive, chronic, progressive, and
frequently fatal disease of the body’s exocrine mucus-producing glands that
primarily affects the respiratory, digestive, and intestinal systems and pancreas in
children and young adults. This leads to lung infections, poor digestion, and poor
food absorption. The sweat glands and the reproductive system are also usually
involved.
Cystic fibrosis (CF) is a genetic disease that affects many organs and lethally
impairs pulmonary function
Cystic fibrosis (CF) is an inherited multisystem disorder that affects infants,
children, and young adults. It obstructs the lungs, leading to major lung infections,
as well as obstructing the pancreas
Incidence and prevalence CF is one of the most common genetic diseases in
Caucasians, although it affects all races and ethnic groups.
It is less common in African Americans, Hispanic (Americans), and Asian
(Americans)
In Australia, 29 people died from cystic fibrosis in 2010. As at 31 December 2011,
3,133 people were recorded to have cystic fibrosis on the Australian Cystic
Fibrosis Data Registry. Of the 74 new Australian CF diagnoses in 2011, 85% were
diagnosed in infancy. In 2001, the number of adults on the register was 35%, in
2011, 49% of the people on the CF register are adults. With advances in medical
management, individuals with CF in Australia have a life expectancy of 35 years
Rick factors: Caucasians, Family History of CF
Causes: Cystic fibrosis is caused by mutations of a large gene on the long arm of
chromosome 7 that codes for a 1480-amino-acid protein, named cystic fibrosis
transmembrane conductance regulator (CFTR).
The most common mutation, in which deletion of three base pairs of the gene
results in the loss of phenylalanine (‘delta F’) at position 508 of the protein, is
traditionally designated ΔF508 (F508del).
Pathophysiology
Due to etiological factors
Reduced chloride secretion and increased sodium reabsorption
The high salt content of the airway surface fluid inactivates defensins, which are
naturally occurring antimicrobial peptides on the epithelial surface
Secretions of abnormal viscosity, with reduced water content of the airway surface
liquid and reduced depth of the periciliary fluid
Disrupts mucociliary clearance.
People with CF lose excessive amounts of salt when they sweat, which can upset
the balance of minerals in the blood and may cause abnormal heart rhythms or
shock
When CFTR is abnormal, two of the hallmarks of CF result: blockage of the
movement of chloride ions and water in the lung and other cells, and the secretion
of abnormal, thick mucus.
The thick mucus secreted by CF patients accumulates in the intestines, lungs,
pancreas, liver, and reproductive tract.
This may result in frequent respiratory infections, lung disease, malnutrition, poor
growth, diabetes, infertility, and various other health problems.
Manifestations Adults with CF may have a variety of pulmonary and non-
pulmonary diseases characterized by airflow obstruction. Purulent secretions lead
to bronchial plugging, and inflammation causes bronchial wall thickening and over
time, airway destruction. These conditions set up an excellent reservoir for
continued bronchial infections.
Manifestations of CFin a young adult includes;
Typical  History of chronic lung disease.  Recurrent pneumonia,  Exercise
intolerance and  Chronic or recurrent productive cough with sputum production,
Other pulmonary manifestations include  Clubbing of the fingers and toes, 
Increased anteroposterior chest diameter (barrel chest),  Hyper resonant
percussion tone and basilar crackles on auscultation.  Distended neck veins, 
Ascites and peripheral oedema accompany right-sided heart failure.  Wheezing,
 Dyspnea,  Acute and chronic bronchitis,  Atelectasis,  Peribronchial and
parenchymal scarring.  Pneumothorax and hemoptysis are common.  Impaired
gas exchange with hypoxemia, Hypercapnia, and corpulmonale occurs in
advanced cases.  Colonization of the airways with pathogenic bacteria usually
occurs early in life.
Non pulmonary signs of CF include  Sinusitis,  Nasal polyps,  Abdominal
problems,  Gassiness,  Rectal prolapse,  Liver disease,  Diabetes, 
Pancreatic insufficiency,  Recurrent pancreatitis,  Distal intestinal obstruction
syndrome,  Meconium ileus,  Diarrhoea,  Abdominal pain and steatorrhoea
(excess fat in the stools, causing frequent, bulky, foul-smelling stool) commonly
result from associated pancreatic insufficiency.
 Nutritional deficiencies,  Biliary cirrhosis,  Gallstones,  Failure to
thrive, (Growth and development are often retarded, resulting in small stature). 
Abnormal sweat chloride concentrations, and  Urogenital abnormalities with
infertility.
Diagnostic Tests
A diagnosis of CF is based on:
1. The result of a quantitative pilocarpineiontophoresis sweat test, which reveals
elevated sodium and chloride levels, along with clinical signs and symptoms
consistent with the disease. Repeated sweat chloride and sodium values of greater
than 60mEq/L or mutations in genes known to cause CF are present in most
individuals with the disease.
2. ABG studies often reveal hypoxemia and in advanced disease, a chronic,
compensated respiratory acidosis.
 3. Pulmonary function studies show a mixed obstructive and restrictive pattern
with reduced airflow, reduced forced vital capacity, reduced total lung capacity and
air trapping.
4. Alveolar-capillary diffusion also is typically reduced. 5. A CT scan may show
lung hyperinflation, pneumothorax, or bronchiectasis. 6. Serum glucose levels
may indicate hyperglycemia
Management
Supplemental oxygen is used to treat the progressive hypoxemia that occurs with
CF. Oxygen may also help to minimize the pulmonary hypertension associated
with chronic hypoxemia.
Medications 1. Antibiotics are usually given when patients experience an increase
in cough, sputum production, or shortness of breath. Antibiotic selection is based
on the results of the culture and sensitivity testing of the sputum Common
antibiotics used for respiratory infection in patients with CF include tobramycin
(Nebcin), gentamicin, cefazolin (Ancef or Kefzol), vancomycin (Vancocin),
linezolid (Zyvox), ceftazidime (Fortaz), piperacillin (Pipracil), piperacillin-
tazobactam (Zosyn), imipenem-cilastatin (Primaxin), aztreonam (Azactam),
cephalexin (Keflex), ciprofloxacin (Cipro), amoxicillin (Amoxil), amoxicillin-
clavulanate (Augmentin), 2. Bronchodilator inhalers may be used to control
airway constriction. 3.Dornasealfa, recombinant human DNase, breaks down the
excess DNA in the sputum of individuals with CF, decreasing its viscosity and
making it easier to clear. Dornasealfa, administered by aerosol, reduces the
frequency of hospitalisations and the need for antibiotics for some individuals. 4.
Chest physiotherapy with percussion and postural drainage is used to promote
airway clearance. Newer airway clearance techniques include the use of the ‘huff’
cough technique with specified breathing cycles or patterns. In one technique, a
valved mask or mouthpiece is used to maintain positive expiratory pressure (PEP)
for approximately 20 breaths, followed by three to five ‘huff’ coughs. This cycle is
repeated for a total of 20 minutes. The autogenic drainage technique, a form of
biofeedback, involves controlled breathing at specific lung volumes and patterns to
facilitate the movement of mucus into larger airways, where it can be cleared with
the ‘huff’ cough. A flutter valve device, which looks like a fat pipe, contains a steel
ball within an inner cone. The weight of the ball provides intermittent PEP, which
vibrates airway walls to loosen secretions.
5. Oxygen therapy may be required for hypoxaemia.
 6. Enteral or parenteral nutrition may be required during acute exacerbations of
the disease.
Surgery Surgical lung transplantation is currently the only definitive treatment for
advanced CF. Single-lung, double-lung and heart lung transplants have been
successfully completed. Because the donor lungs do not have the CF gene, they do
not develop the pathophysiological changes of CF. Although the other defects
characteristic of CF remain, these can be managed with pharmacological therapy.
Nursing Management Promoting airway clearance is the priority of nursing care.
The nurse needs to teach the patient the importance of pancreatic enzyme
replacement and adequate fluid and dietary intake to promote removal of secretions
and to ensure adequate nutrition.
Because CF is a lifelong disorder, patients learn early to modify their daily
activities to accommodate their symptoms and treatment modalities.
A liberal fluid intake helps reduce the viscosity of mucus secretions.
A diet high in protein, fat and kilojoules may be necessary to maintain weight.
Vitamins and minerals are supplemented to counteract excess losses in the sweat
and stools.
Patient education Patients are taught to prevent respiratory tract infections by
reducing exposure to crowds harbouring possible infections and to people with
known infections.
The importance of good hand washing technique to prevent infection is stressed to
patients and families.
Patients with CF should also be warned to avoid areas undergoing building
construction or renovation because of the risk of exposure to high aspergillus
levels.
Genetic counselling is offered to adults with a positive family history of CF and to
partners of people with CF planning a pregnancy or seeking prenatal testing.
Assessment of the home environment will identify modifications required to
address changes in the patient’s needs, increasing dyspnoea, fatigue, and other
non-pulmonary symptoms.
Nursing Diagnoses • Ineffective airway clearance related to thick, tenacious
mucus in airways
• Impaired gas exchange related to airway obstruction
• Nutritional imbalance, less than body requirements, and malabsorption of fats in
the intestine, related to absence of pancreatic enzymes
• Deficient knowledge regarding self-care and medication management
Prevention 1. Immunisation against respiratory infections is vital to promote
optimal health. 2. Yearly influenza vaccine is recommended, along with measles
and pertussis boosters as needed. 3. Tobramycin (TOBI) is an aerosolized
medication and the best-studied antibiotic used to prevent or treat lower respiratory
tract infections in patients with CF. The advantage of TOBI is that it is delivered to
the actual site of infection, causing less systemic toxicity than the parenteral route.
Concerns about aerosolized antibiotics include the potential emergence of drug-
resistant organisms, equipment contamination with a drug-resistant organism, and
the side effects of medications, such as bronchospasm.
Nearly all men with CF have congenital bilateral absence of the vas deferens with
azoospermia. Patients with CF are at increased risk of developing malignancies of
the GI tract, osteopenia, and arthropathies. Patients also often complain of
decreased exercise tolerance, muscle weakness, recurrent infection, facial sinus
tenderness, and purulent nasal discharge.
Complications
Patients with CF are at risk for a variety of complications, including 
Bronchiectasis,  Pneumothorax,  Corpulmonale, and  Respiratory failure.
 Bowel obstructions can occur as a result of thick mucus binding with poorly
digested faecal matter.  Diabetes from pancreatic islet cell involvement may be
present late in the disease.  Death is usually the result of pulmonary
complications, especially antibiotic-resistant infection.