1 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Chapter 14 Cystic Fibrosis

2 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Figure Cystic fibrosis.

3 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc.  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 Anatomic Alterations of the Lungs

4 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc.  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—  23 pairs (one half inherited from father and the other half from mother). Etiology

5 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc.   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)   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. Etiology (Cont’d)

6 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Figure Standard Mendelian pattern of inheritance of cystic fibrosis.

7 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Screening and Diagnosis

8 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc.

9 Screening and Diagnosis (Cont’d)  Sweat Test  Immunoreactive Trypsinogen Test  Stool Fecal Fat Test  Nasal Potential Difference (NPD)  Genetic Testing  Prenatal Testing  Amniocentesis  Chorionic villus biopsy

10 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Figure Sweat test.

11 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Overview of the Cardiopulmonary Clinical Manifestations Associated with Cystic Fibrosis The following clinical manifestations result from the pathophysiologic mechanisms caused (or activated) by  Atelectasis  Bronchospasm  Excessive Bronchial Secretions

12 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc.

13 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc.

14 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc.

15 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Clinical Data Obtained at the Patient’s Bedside

16 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. The Physical Examination  Vital Signs  Increased Respiratory rate (Tachypnea) Heart rate (pulse) Blood pressure

17 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. The Physical Examination (Cont’d)  Use of accessory muscles of inspiration  Use of accessory muscles of expiration  Pursed-lip breathing

18 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. The Physical Examination (Cont’d)  Increased anteroposterior chest diameter (barrel chest)  Cyanosis  Digital clubbing

19 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. The Physical Examination (Cont’d)  Peripheral edema and venous distension  Distended neck veins  Pitting edema  Enlarged and tender liver  Cough, sputum production, and hemoptysis

20 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. The Physical Examination (Cont’d)  Chest Assessment Findings  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

21 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Clinical Data Obtained from Laboratory Tests and Special Procedures

22 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Pulmonary Function Test Findings Moderate to Severe Bronchiectasis (Obstructive Lung Pathophysiology) Forced Expiratory Flow Rate Findings FVC FEV T FEV 1 /FVC ratio FEF 25%-75     FEF 50% FEF PEFR MVV    

23 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 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 

24 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Arterial Blood Gases Cystic Fibrosis Mild to Moderate Stages Acute Alveolar Hyperventilation with Hypoxemia (Acute Respiratory Alkalosis) pH PaC0 2 HCO 3 Pa0 2    (slightly) 

25 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. PaO 2 and PaCO 2 trends during acute alveolar hyperventilation.

26 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Arterial Blood Gases Cystic Fibrosis Severe Stage Chronic Ventilatory Failure with Hypoxemia (Compensated Respiratory Acidosis) pH PaC0 2 HCO 3 Pa0 2 N   (Significantly) 

27 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. PaO 2 and PaCO 2 trends during acute or chronic ventilatory failure.

28 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Arterial Blood Gases Acute Ventilatory Changes Superimposed On Chronic Ventilatory Failure  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:  Acute alveolar hyperventilation superimposed on chronic ventilatory failure  Acute ventilatory failure (acute hypoventilation) superimposed on chronic ventialtory failure.

29 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Oxygenation Indices Moderate to Severe Stages Q S /Q T D02 V02 C(a-v)02 02ER Sv02   N N  

30 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Hemodynamic Indices Moderate to Severe Stages CVP RAP PA PCWP CO SV    N N N SVI CI RVSWI LVSWI PVR SVR N N  N  N

31 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Abnormal Laboratory Tests and Procedures  Hematology  Increased hematocrit and hemoglobin  Increased white blood count  Electrolytes  Hypochloremia (chronic ventilatory failure)  Increased serum bicarbonate ( chronic ventilatory failure)

32 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Abnormal Laboratory Tests and Procedures (Cont’d)  Sputum examination  Gram-positive bacteria Streptococcus pneumoniae Haemophilus influenzae Pseudomonas aeruginosa  Gram-negative bacteria Stenotrophomnas maltophilia Burkholderia cepacia Burkholderia pickettii Burkholderia gladioli

33 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Radiologic Findings  Chest Radiograph  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)

34 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Figure Chest X-ray of a patient with cystic fibrosis. Note the lung overinflation, the diffuse infiltrates, and the large main pulmonary artery segment.

35 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Figure 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.

36 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Common Nonrespiratory Clinical Manifestations   Meconium ileus   Meconiumileus equivalent   Malnutrition and poor body development   Deficiencies of vitamins A, D, E, and K   Nasal polyps and sinusitis   Infertility (males)

37 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. General Management of Cystic Fibrosis   Patient and family education   Respiratory care treatment protocols   Oxygen therapy protocol   Bronchopulmonary Hygiene Therapy Protocol   Lung Expansion Therapy Protocol   Aerosolized Medication protocol   Mechanical Ventilation Protocol

38 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Figure14-6. An 18-month-old female cystic fibrosis patient wearing a high-frequency chest compression (HFCC) vest (the inCourage System).

39 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. 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   Some advances in gene therapy

40 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Classroom Discussion Case Study: Cystic Fibrosis

41 Mosby items and derived items © 2011, 2006 by Mosby, Inc., an affiliate of Elsevier Inc. Figure14-7. Chest x-ray of a 27-year-old man with cystic fibrosis.