Chapter 14
Cystic Fibrosis
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Figure 14-1. Cystic fibrosis.
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Anatomic Alterations of the Lungs
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Excessive mucus production and
accumulation of thick, tenacious mucus in the
tracheobronchial tree
Partial or total bronchial obstruction (mucus
plugging)
Atelectasis
Hyperinflation of the alveoli
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Etiology
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Cystic fibrosis is an autosomal recessive
gene disorder caused by mutations in a pair
of genes located on chromosome 7.
Under normal conditions, every cell in the
body (except the sex cells) has 46
chromosomes—
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23 pairs (one half inherited from father and the
other half from mother).
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Etiology (Cont’d)
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Over 1000 different mutations in the gene that
encodes for the cystic fibrosis transmembrane
conductance regulator (CFTR) have been
described.
One genetic defect linked to cystic fibrosis involves
the absence of three base pairs in codon 508
(ΔF508)
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that code for phenylalanine on chromosome 7 (band q31).
This is the most common genetic mutation
associated with cystic fibrosis and accounts for 70%
to 75% of the cystic fibrosis patients tested.
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Figure 14-2. Standard Mendelian pattern of inheritance of cystic fibrosis.
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Screening and Diagnosis
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Screening and Diagnosis (Cont’d)
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Sweat Test
Immunoreactive Trypsinogen Test
Stool Fecal Fat Test
Nasal Potential Difference (NPD)
Genetic Testing
Prenatal Testing
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Amniocentesis
Chorionic villus biopsy
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Figure 14-3. Sweat test.
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Overview
of the Cardiopulmonary Clinical Manifestations
Associated with
Cystic Fibrosis
The following clinical manifestations result from the
pathophysiologic mechanisms caused (or activated)
by
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Atelectasis
Bronchospasm
Excessive Bronchial Secretions
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Clinical Data Obtained at the
Patient’s Bedside
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The Physical Examination
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Vital Signs
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Increased
• Respiratory rate (Tachypnea)
• Heart rate (pulse)
• Blood pressure
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The Physical Examination (Cont’d)
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Use of accessory muscles of inspiration
Use of accessory muscles of expiration
Pursed-lip breathing
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The Physical Examination (Cont’d)
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Increased anteroposterior chest diameter
(barrel chest)
Cyanosis
Digital clubbing
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The Physical Examination (Cont’d)
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Peripheral edema and venous distension
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Distended neck veins
Pitting edema
Enlarged and tender liver
Cough, sputum production, and hemoptysis
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The Physical Examination (Cont’d)
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Chest Assessment Findings
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Decreased tactile and vocal fremitus
Hyperresonant percussion note
Diminished breath sounds
Diminished heart sounds
Bronchial breath sounds (over atelectasis)
Crackles, rhonchi, and wheezing
Spontaneous Pneumothorax
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Clinical Data Obtained from
Laboratory Tests and Special
Procedures
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Pulmonary Function Test Findings
Moderate to Severe Bronchiectasis
(Obstructive Lung Pathophysiology)
Forced Expiratory Flow Rate Findings
FVC
FEVT
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
FEF50%
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FEV1/FVC ratio
FEF25%-75
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FEF200-1200
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
PEFR
MVV


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Pulmonary Function Test Findings
Moderate to Severe
(Obstructive Lung Pathophysiology)
Lung Volume & Capacity Findings
VT
IRV
ERV
RV
VC
N or 
N or
N or


IC
FRC
TLC
RV/TLC ratio
N or

N or 
N or 
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Arterial Blood Gases
Cystic Fibrosis
Mild to Moderate Stages
Acute Alveolar Hyperventilation with Hypoxemia
(Acute Respiratory Alkalosis)
pH
PaC02


HCO3
 (slightly)
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Pa02

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PaO2 and PaCO2 trends during acute alveolar hyperventilation.
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Arterial Blood Gases
Cystic Fibrosis
Severe Stage
Chronic Ventilatory Failure with Hypoxemia
(Compensated Respiratory Acidosis)
pH
PaC02
N

HCO3
 (Significantly)
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Pa02

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PaO2 and PaCO2 trends during acute or chronic ventilatory failure.
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Arterial Blood Gases
Acute Ventilatory Changes Superimposed
On
Chronic Ventilatory Failure
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Because acute ventilatory changes are frequently
seen in patients with chronic ventilatory failure, the
respiratory care practitioner must be familiar with and
alert for the following:
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Acute alveolar hyperventilation superimposed on chronic
ventilatory failure
Acute ventilatory failure (acute hypoventilation)
superimposed on chronic ventialtory failure.
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Oxygenation Indices
Moderate to Severe Stages
QS/QT
D02
V02
C(a-v)02
02ER
Sv02
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
N
N


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Hemodynamic Indices
Moderate to Severe Stages
CVP
RAP
PA
PCWP
CO
SV
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
N
N
N
SVI
CI
RVSWI
LVSWI
PVR
SVR
N
N

N

N
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Abnormal Laboratory Tests and
Procedures
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Hematology
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Increased hematocrit and hemoglobin
Increased white blood count
Electrolytes
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Hypochloremia (chronic ventilatory failure)
Increased serum bicarbonate (chronic ventilatory
failure)
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Abnormal Laboratory Tests and
Procedures (Cont’d)
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Sputum examination
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Gram-positive bacteria
• Streptococcus pneumoniae
• Haemophilus influenzae
• Pseudomonas aeruginosa
Gram-negative bacteria
• Stenotrophomnas maltophilia
• Burkholderia cepacia
• Burkholderia pickettii
• Burkholderia gladioli
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Radiologic Findings
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Chest Radiograph
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Translucent (dark) lung fields
Depressed or flattened diaphragms
Right ventricular enlargement
Areas of atelectasis and fibrosis
Bronchiectasis (often a secondary complication)
Pneumothorax (spontaneous)
Abscess formation (occasionally)
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Figure 14-4. Chest X-ray of a patient with cystic fibrosis. Note the lung overinflation, the diffuse
infiltrates, and the large main pulmonary artery segment.
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Figure 14-5. Cystic fibrosis. Serial chest imaging over a 26 year period showing the progressive changes of
cystic fibrosis. A, At 3 years of age, the patient had right middle lobe pneumonia. B, Mild hyperinflation and
bronchial wall thickening (arrow) by age 7 years. C, At age 15 years, the patient demonstrates progressive
hyperinflation, bronchiectasis, and enlargement of the hila on the chest radiograph. D, Lateral chest
radiograph at 29 years shows typical findings of end-stage cystic fibrosis. Note marked hyperinflation and
“barrel chest” deformity, severe bronchiectasis, and tubular opacities consistent with mucous plugs.
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Common Nonrespiratory Clinical
Manifestations
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Meconium ileus
Meconiumileus equivalent
Malnutrition and poor body development
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Deficiencies of vitamins A, D, E, and K
Nasal polyps and sinusitis
Infertility (males)
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General Management of
Cystic Fibrosis
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Patient and family education
Respiratory care treatment protocols
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Oxygen therapy protocol
Bronchopulmonary Hygiene Therapy Protocol
Lung Expansion Therapy Protocol
Aerosolized Medication protocol
Mechanical Ventilation Protocol
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Figure14-6. An 18-month-old female cystic fibrosis patient wearing a high-frequency chest
compression (HFCC) vest (the inCourage System).
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General Management of
Cystic Fibrosis (Cont’d)
Medication and special procedures prescribed
by the physician
 Xanthines
 Expectorants
 Antibiotics
 Lung or heart/lung transplantation
 Future Treatments
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Some advances in gene therapy
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Classroom Discussion
Case Study: Cystic Fibrosis
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Figure14-7. Chest x-ray of a 27-year-old man with cystic fibrosis.
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