Overview of Cystic fibrosis in children Apeksha Sathyaprasad, MD Pediatric pulmonologist
No conflicts of interest
OBJECTIVES Review pathophysiology of pulmonary disease in cystic fibrosis Review diagnostic criteria for cystic fibrosis Understand role of lung function testing in cystic fibrosis Know management strategies of a child with cystic fibrosis Review extrapulmonary manifestations of cystic fibrosis
INTRODUCTION Cystic Fibrosis is the most common, inherited, life shortening, condition in Caucasians 1 in 3000 live births; Carrier rate approx. 1 in 30 Autosomal recessive mutation in CFTR gene on chromosome 7 Nearly 2000 different mutations, most common is delf508 Defective sodium, chloride and bicarbonate ion transport
DIAGNOSIS AND PATHOGENESIS Newborn screening Sweat chloride, genetic testing Lungs appear morphologically normal at birth Increased inflammation and mucus plugging Kendig and Chernicks s text book Repeated infections and lung damage
PATHOGENESIS Segmental hyperinflation or atelectasis, postinflammatory blebs, bronchiectasis,pneumothorax Bronchial artery hypertrophy and hemoptysis Kendig and Chernicks s text book Bacteremia and sepsis are rare European respiratory society
BRONCHIECTASIS https://radiopaedia.org/cases/cystic-fibrosis-17 Kendig and Chernicks s text book
AIRWAY ORGANISMS Pediatr Clin North Am. doi: 10.1016/j.pcl.2016.04.003
PFT Normal PFT does not imply that there is no lung disease Changes can be subtle Lung volumes, body plethysmography, multiple breath washout CHEST 1990 97, 504-505DOI: (10.1378/chest.97.2.504
SCREENING Respiratory Spirometry at every visit (quarterly) Sputum culture CXR yearly Full PFT every year Non-respiratory CBC, liver function, PT/INR, PTT, fecal elastase Mental health screening Bone scan (DEXA)
MANAGEMENT Kendig and Chernicks s text book
PULMONARY EXACERBATION Increased cough Change in mucus- color, consistency, amount Drop in FEV1 Poor appetite, weight loss Fatigue Fever, increased inflammatory markers are NOT always seen
MANAGEMENT OF PULMONARY EXACERBATION Augmented airway clearance Antibiotics- at least 2 weeks Nutrition
HEMOPTYSIS IN CF Cause for concern Admit patient HOLD AIRWAY CLEARANCE AND MOST INHALED THERAPIES Quantify Antibiotics Vitamin K Bronchial artery embolization
OTHER ASPECTS OF CYSTIC FIBROSIS Upper airway: sinusitis, nasal polyps GI disease- meconium ileus, rectal prolapse Pancreatic insufficiency Liver disease CF related diabetes Science direct
NUTRITION Pancreatic insufficiency Poor appetite Increased energy expenditure Require pancreatic enzyme supplements High protein, high calorie diet Affects quality of life and outcome
AIRWAY CLEARANCE Started very early in newborn period (newborn screen) Done regularly To clear mucus plugs and relieve obstruction Prevent infection and inflammation Preserve lung function
AIRWAY CLEARANCE Albuterol Hypertonic Saline Deoxyribonuclease Inhaled corticosteroids Inhaled antibiotics
ALBUTEROL Airway clearance Bronchospasm Routine use- no strong evidence for or against Useful in patients with strong bronchodilator response
HYPERTONIC SALINE Ages 6 and up SHIP and other infant studies 3-7% NaCl Hydration of airway surface liquid Induces cough Can cause bronchospasm
DORNASE ALPHA/ PULMOZYME Well studied in CF bronchiectasis Dissolves DNA of neutrophils in sputum High net benefit, especially in moderate to severe lung disease
DORNASE ALPHA/ PULMOZYME FOR NON-CF BRONCHIECTASIS 349 adults with idiopathic bronchiectasis, stable disease received aerosolized dornase alfa or placebo twice daily for 24 weeks Pulmonary exacerbations were more frequent and FEV1 decline was greater in patients who received the inhaled mucolytic agent compared with placebo O Donnell AE, et al. Chest 1998; 113:1329-34
INHALED ANTIBIOTICS Pseudomonas aeruginosa- frequency of exacerbations, decline in lung function Inhaled Tobramycin 300 mg BID Dry powder inhaler 112 mg BID Treatment for eradication for 28 days Suppression of chronic colonization for 28 days every other month
INHALED ANTIBIOTICS Inhaled Aztreonam/ Cayston 75mg BID Inhaled Colistin Inhaled Vancomycin powder for MRSA Inhaled Amikacin for NTM Inhaled nitric oxide currently under research
INHALED CORTICOSTEROIDS Asthma- airway hyperreactivity ABPA
ORDER OF TREATMENTS Albuterol Hypertonic saline Vest Pulmozyme Inhaled corticosteroids Inhaled antibiotics
ACT Manual CPT HFCWO Positive expiratory pressure (PEP) Oscillating PEP Intrapulmonary percussive ventilation Frequencer, Vibralung Other: Active cycle breathing technique (ACBT) Autogenic drainage Exercise
ACT Age Developmental/ skill level Patient preference Insurance Family s ability Routine versus exacerbation Travel Response to treatment
HFCWO Oscillatory air flow- break mucus away from walls and move then to central airways Central and peripheral airway clearance Physical nature of mucus also affected Hill-Rom Vest fit, frequency, pressure InCourage
MINNESOTA PROTOCOL Frequency Pressure Huff cough 8 10 Huff cough during pause 9 10 Huff cough during pause 10 10 Huff cough during pause 18 6 Huff cough during pause 19 6 Huff cough during pause 20 6 Huff cough during pause *If the pressure of 10 is uncomfortable, use the Starting Pressure setting
PERCUSSION/ VIBRATION Disks or pods which percuss and vibrate Afflo vest and Monarch vest Monarch Afflovest
INTRAPULMONARY PERCUSSIVE VENTILATION Internal percussion Via mask, mouth piece, tracheostomy or ET tube Loosens mucus IPV, Metaneb, CoughAssist E70
PEP Breathing against pressure stents airways open Air into distal airways via collateral channels and gets behind secretions Therapep, bubble, Respionics PEP
Oscillating PEP PEP with oscillations on exhalation AerobikA Flutter Acapella
ACT Postural drainage- head down positions no longer recommended Huffing: mobilize and clear secretions Gentle coughing Different levels of vital capacity Autogenic drainage Tidal breathing at different levels of TLC 3 second breath hold Expiratory airflow mobilizes secretions
EQUIPMENT CFF
CLEANING Cleaning: Warm soapy water, dishwashing soap Rinse: with tap water ok for initial rinse, but use only sterile water for final rinse after disinfecting Disinfect: Boil, microwave, dishwasher, soak in hydrogen peroxide, isopropyl alcohol Air dry overnight
HOSPITAL Disposable: Rinse with water after each use. Replace after 24 hours Non-disposable: Clean, disinfect, air-dry
INFECTIOUS CONTROL Gown, mask, gloves Order of patient depends on patient s airway organism Amazon Hand washing PFT done in negative pressure room HEPA filter or 30 minute gap in-between filters
INFECTIOUS CONTROL Private room Can leave room with gown and mask 6 feet between any 2 CF patients Use dedicated disposable equipment Rules exempted for family members
INFECTIOUS CONTROL Hand hygiene The most effective means of preventing person-to-person transmission of bacteria is good hand hygiene. Patients must clean their hands with alcohol-based handwash or soap before leaving their rooms and before entering and leaving any common rooms. Hand cleaning should be performed after coughing spells Masks All patients with cystic fibrosis are required to wear a mask when outside of their own rooms Masks should cover both nose and mouth Masks should be changed at least every 30 minutes or when moist or soiled
SUMMARY CF is a complex condition that affects various organ systems Pulmonary disease is major cause of morbidity and mortality Appropriate airway clearance is important in maintaining lung functinon One size does not fit all Best technique is one that the patient will use
REFERENCES 1. Kendig and Chernick s Disorders of the respiratory tract in children 1. G Steinkamp, et.al., On Behalf Of The German CFQA Group. Relationship between nutritional status and lung function in cystic fibrosis: cross sectional and longitudinal analyses from the German CF quality assurance (CFQA) 1. Cff.org 1. O'Donnell AE1 et.al.treatment of idiopathic bronchiectasis with aerosolized recombinant human DNase I. rhdnase Study Group.Chest.1998 May;113(5):1329-34 1. CFF Respiratory: Which nebulizer for which drug? 1. Lung Epithelial Biology in the Pathogenesis of Pulmonary Disease; 2017, Pages 219-249 1. Pediatr Clin North Am. 2016 Aug;63(4):617-36. Cystic Fibrosis: Microbiology and Host Response. Zemanick ET1, Hoffman LR2.
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