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Cystic fibrosis

Cystic fibrosis. Tiffany Rimmer. Cystic Fibrosis. CF is the most common lethal autosomal recessive genetic disease in Caucasians. It affects over 30,000 individuals in the United States. The median survival age is 35 years old. Cystic Fibrosis.

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Cystic fibrosis

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  1. Cystic fibrosis Tiffany Rimmer

  2. Cystic Fibrosis • CF is the most common lethal autosomal recessive genetic disease in Caucasians. • It affects over 30,000 individuals in the United States. • The median survival age is 35 years old.

  3. Cystic Fibrosis • CF is a chronic disease with primary manifestations in the Respiratory, Digestive, and Reproductive systems. • Characterized primarily by: • Chronic obstruction and infection of airways • Exocrine pancreatic insufficiency with its consequences of maldigestion and small bowel obstruction • Elevated sweat chloride levels

  4. Genetics • Defect in a single gene on chromosome 7 • Autosomal recessive disease with mutations in the CFTR gene • Both parents of a child with CF are carriers of the gene, which means there is a 1 in 4 chance these parents will have a child with CF • There is family history in only 17% of newly diagnosed patients • It is estimated that 4% of Caucasians in the US are carriers with no recognizable clinical symptoms

  5. Diagnosis • Diagnosis is made at the median age of 6 months • Diagnosis requires positive lab testing along with history or clinical conditions consistent with CF • One item from each of the following categories must be present • Lab Testing • Sweat Chloride Level >60 mEq/L • Two CFTR mutations identified • Abnormal ion transport across nasal epithelia • History or Condition • Clinical evidence of CF • Sibling with CF • Positive newborn screening for CF

  6. Diagnosis • Sweat Test is the standard diagnosis for CF • Sweat is obtained by stimulating the skin on the forearm with pilocarpineiontophoresis • Normal secretion and resorption of chloride in the sweat gland are dependent on CFTR • In CF, there is a production of hypertonic sweat containing high concentrations of sodium and chloride • Must have a level >60 mEq/L

  7. Pulmonary Disease • Accounts for much of CF morbidity and causes death in more than 90% of cases • Abnormal water and electrolyte transport across the respiratory epithelium • Leads to thick tenacious sputum, impaired secretion clearance, mucus plugging of the airways, chronic bacterial infection, and airway inflammation • Usually begins with an onset of NPC that evolves into a loose, productive cough with purulent secretions

  8. Pulmonary Disease • Mucus production & Airway Obstruction • Lungs are normal at birth; airway dysfunction begins during first year of life • Thickened mucus and plugging of the submucosal gland ducts in the large airways • Increased goblet cells and hypertrophy of submucosal glands; leads to increased secretions and sputum production • Secretions are relatively dehydrated • Disease was once referred to as mucoviscidosis • Mucociliary clearance is variable; reduction in clearance is believed to be caused by increased volume of secretions and abnormally thick mucus

  9. Pulmonary Disease • Bacterial infections • Infection is caused by colonization of CF airways with various bacteria (Staphylococcus aureus, Haemophilusinfluenzae, Pseudomonas) • May result in acute necrotizing pneumonia • Results in progressive damage to the airway wall and accumulation of thicker sputum within the scarred airways; severe obstruction of the airway results and the pt develops bronchiectasis and respiratory failure

  10. Pulmonary Disease • Airway inflammation • Major component of CF and occurs early in disease process • Present in those as young as 4 weeks, likely occurring before infection • Abundance of neutrophils and the enzyme neutrophilelastase may be responsible for the airway destruction and inflammatory response

  11. Clinical Manifestations • Bronchitis • Bronchiectasis • Pneumonia • Refractory asthma • Chronic cough • Sputum is mucopurulent and difficult to expectorate • Tachypnea • Dyspnea • Use of accessory muscles • Retractions • Wheezes, crackles, rhonchi, and decreased air exchange on auscultation • Digital clubbing (advanced CF)

  12. Clinical Manifestations • Chronic hypoxemia and progressive lung disease lead to increased pulmonary vascular resistance, hypertension and corpulmonale • Chest Xray (Pg 603) • Initially shows hyperinflation with flattened diaphragm secondary to air trapping • Mucus plugging and bronchial wall thickening • Diffuse fibrosis and bronchiectasis in upper lobes at beginning but eventually involves all fields • Pneumothorax occurs in older pts as result of a rupture of subpleural blebs

  13. Clinical Manifestations • PFT • Initially shows airflow obstruction but as it progresses, shows both restrictive and obstructive patterns as well as decrease in air flow • 50% of pts have positive methalcholine challenge tests which indicates hyperreactivity

  14. Clinical Manifestations • Upper airway disorders-sinusitis, nasal polyps • Pancreatic insufficiency • Steatorrhea • Failure to thrive • Failure to gain weight in spite of good appetites • Diabetes Mellitus • MeconiumIleus & Distal Intestinal Obstruction • Rectal prolapse • GERD • Sterility in males • Hepatobilliary disorders-cirrohsis, gallbladder abnormalities

  15. Treatment • Focus on routine therapy aimed at physically removing thickened mucus from the airways and pharmacologic control of infection with the aggressive use of antibiotics • Medications (CFF Handout) • Airway and Secretion Clearance • Antibiotic Therapy • Oxygen Therapy • Lung transplant

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