What is Cystic Fibrosis? CYSTIC FIBROSIS. Genetics of CF
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1 What is Cystic Fibrosis? CYSTIC FIBROSIS Lynne M. Quittell, M.D. Director, CF Center Columbia University Chronic, progressive and life limiting autosomal recessive genetic disease characterized by chronic respiratory disease, pancreatic insufficiency, i elevation of sweat electrolytes and male infertility Wehe dem Kind, das beim Kuss auf die Stirn salzig schmekt, er ist verhext und muss bald sterben Woe is the child who tastes salty from a kiss on the brow, for he is cursed, and soon must die Genetics of CF Most common lethal genetic disease in Causasians 30,000 affected individuals in US 27,000 in Europe CFTR - camp regulated chloride channel located in apical membrane of glandular epithelium Encodes for a protein of 1480 amino acids Defective ion transport Long arm of chromosome #7 D508 most common mutation > 1500 identified mutations 1
2 Ion Transport The Cystic Fibrosis Airway Bacteria Phagocytic Cells Lysozyme Lactoferin, SLPI Phospholipase A2 Secretory IgA SP-A, SP-D, NO hbd-1, hbd-2, LL-3 Cl- Na+ CFTR Mucociliary Clearance Mucus Plug NFκβ IL-8 Mucus Neutrophils Cl-Na+ Acquired Immunity Used with permission - R. Gibson,
3 The sweat test ( Chloride) Normal Under 40 meq/l Borderline meq/l Positive Over 60 meq/l CF: Pulmonary Disease Pathogenesis of Cystic Fibrosis Lung Disease CF Gene Abnormal CFTR Mucous Plugging Infection Inflammation Morbidity Mortality C F P A N C R E A S Presentation (CF PANCREAS) Chronic respiratory disease Failure to thrive Polyps Alkalosis, metabolic Neonatal intestinal obstruction Clubbing of fingers Rectal prolapse Electrolyte in sweat Aspermia / absent vas deferens Sputum S.aureus/P.aeruginosa Airway Mucous Plugging, Infection, and Inflammation in Cystic Fibrosis Used with permission J. Wagener,
4 Age Specific Prevalence of Respiratory Infections in CF Patients Hifl H. influenza B. cepacia P. aeruginosa S. aureus 0 to 1 2 to 5 6 to to to to to Age (Years) MRSA S. maltophilia P. aeruginosa 56.4% H. influenza 17.0% B. cepacia Complex 3.1% S. aureus 51.8% S. maltophilia 12.3% MRSA 17.2% Evidence of increased inflammation in BALF of infants with CF % Neutrophils Controls CF Uninfected Infected Uninfected Infected (n = 23) (n = 27) (n = 23) (n = 28) Adapted from Muhlebach et al. Am J Respir Crit Care Med 1999; 160: IL-8 (ng/ml) CF Lung: End-Stage Bronchiectasis CF Lung Function
5 Signs and Symptoms of Pulmonary Exacerbation Increased cough Increased sputum Weight loss School/work absenteeism Increased dyspnea New chest findings rales, wheezes Decreased exercise tolerance Decreased FEV1 down 10% New radiographic findings CF mild disease: hyperinflation, increased markings CF advanced disease: with bronchiectasis High-Resolution Inspiratory and Expiratory CT Scan in 12 year old Used with permission - C. Milla,
6 CF: Pulmonary Complications CF: Respiratory management Regular visits to CF Center Airway clearance Mucus thinners (DNase, hypertonic saline) Antibiotics( PO-IV-Aerosol) Anti inflammatory agents Airway Clearance CPT Vest Flutter ACB ISSUES Reflux Adherence Airway Clearance Chest Physical therapy Vest mechanical percussion Flutter, Acapella Breathing techniques : ACB Exercise Mucolytic agents Recombinant DNase Hypertonic saline Treating Airway infections Prophylactic treatment prevent colonization Exacerbations improves lung function reduces inflammation decreases bacterial density First isolates may delay colonization 6
7 Antibiotics Oral IV Aerosolized Special Considerations: Volume of distribution Sensitivities Drug Interactions Side effects Steroids inhaled v oral Ibuprofen Macrolides Anti-inflammatory Rx ISSUES Safety Adherence? Delay in progression of the disease Relative Change in FEV 1 % Predicted Day 168 Treatment Effect: 6.21% (p=0.001) Azithromycin Day 168 Δ: 4.44% Placebo Day 168 Δ : -1.77% Study Day CF PFT s CF: Gastrointestinal Disease Pancreatic insufficiency/malabsorption Lipo-soluble vitamin deficiency Failure to thrive Neonatal intestinal obstruction (15%) Recurrent distal intestinal obstruction Biliary stasis 7
8 CF: Pancreasmalabsorption 40 Median Predicted Survival Age, (with 95 percent confidence bounds) SUMMARY Survival Age (Years) Median S '85 '86 '87 '88 '89 '90 '91 '92 '93 '94 '95 '96 '97 '98 '99 '00 '01 '02 '03 '04 '05 Year As of August 2006, the median predicted survival is 36.5 years for Need to understand the pathophysiology of CF lung disease in young patients Need to understand the risk/benefit ratio of new treatments Adherence Window of opportunity Changing landscape 8
Goals Basic defect Pathophysiology Clinical i l signs and symptoms Therapy
CYSTIC FIBROSIS Lynne M. Quittell, M.D. Director, CF Center Columbia University Goals Basic defect Pathophysiology Clinical i l signs and symptoms Therapy What is Cystic Fibrosis? Chronic, progressive
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