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Cystic fibrosis

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Cystic Fibrosis

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Cystic fibrosis

  1. 1. Cystic Fibrosis More than mucus
  2. 2. dr. ravindra k. Sharma Pediatric specialist Fujairah hospital UAE
  3. 3. 1838 Carl Von Rokitansky’s autopsy of infant with Meconium peritonitis 1905 1938 Austrian Karl Landsteiner Cystic fibrosis disease describes Meconium ileus identified by American Dorothy H. Andersen 3
  4. 4. Fibrosis   Cystic   Know the clinical features of cystic fibrosis. Know how CF is inherited. Be familiar with criteria to diagnose CF. Become aware of the myriad of treatments used in CF.
  5. 5. Fibrosis Cystic    A multisystem disease Autosomal recessive inheritance Cause: mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene   chromosome 7 codes for a c-AMP regulated chloride channel
  6. 6.      Very salty-tasting skin Appetite, but poor growth & weight gain Coughing, wheezing ,at times with phelgum & shortness of breath Lung infections, e.g. pneumonia/bronchitis greasy, bulky stools or difficulty in bowel movements 6
  7. 7. Fibrosis     Cystic       C F P A N C R E A S 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
  8. 8. Fibrosis Cystic      Most common ―life-shortening‖ recessive disease in Caucasians  1:3,200 in the northern Europian US  1:15,000 population in blacks  1 :10,500 Native Americans  1 :9,200 Hispanics  1 :31,000 Asian Americans  1 :90,000 Asians (Ref : emedicine medscape) 1,000 new cases diagnosed / year. More than 70% diagnosed by age two. More than 45% of CF population is 18 Y or older. predicted median age of survival is more than 36.9 years.M>F
  9. 9. CFTR controls chloride ion movement in and out of the cell.
  10. 10.    The CFTR gene is located on the long arm of chromosome 7. There are 1604 mutations in CFTR listed on the CFTR mutation database The most common mutation is Δ F508---70% CF alleles in caucasians.
  11. 11.       Defects in (CFTR), - encodes for a protein that functions as chloride channel & regulated by (cAMP). Abnormalities of cAMP-regulates chloride transport Defective CFTR - decreased secretion of chloride and increased re-absorption of sodium and water Reduced height of epithelial lining fluid Decreased hydration of mucus - that is stickier to bacteria Result in viscid secretions
  12. 12.  Class I    Defective protein production Defects in processing Class II   Class III   CFTR reaches cell surface but regulation is defective (channel not activated) Class IV   ΔF508 CFTR in membrane with defective conduction Class V  Decreased synthesis of CFTR Class VI  Accelerated turnover from cell surface
  13. 13. CF: Clinical Signs
  14. 14. 15 Cystic fibrosis affects entire body • Lungs and sinuses • GI, liver and pancreas • Reproductive system •Nutritional
  15. 15. Fibrosis  Endobronchial disease    Cystic   Cough / sputum production Air obstruction---wheezing; evidence of obstruction on PFTs Chest x-ray anomalies Digital Clubbing Sinus disease  Nasal Polyps / sinusitis/ hemoptysis
  16. 16.      Hyperinflation Peribronchial cuffing Bronchiectasis Diffuse fibrosis Atelectasis
  17. 17. Presentation of Disease in lung Mucous in the airways cannot be easily cleared from the lungs.
  18. 18.      Benign lesions in nasal airway(5-20 yrs) If large - associated with nasal obstruction, drainage, heada ches, snoring associated with chronic inflammation need surgical intervention High recurrence rate
  19. 19. Fibrosis       Cystic Intestinal abnormality Hepatobiliary disease     Meconium ileus (15-20% of newborn with CF) Distal intestinal obstruction syndrome (DIOS) Intussusception / Rectal prolapse Volvulus / atresia / meconium peritonitis steatorrhea Focal biliary cirrhosis Multilobular cirrhosis Pancreatic endocrine dysfunction  Cystic fibrosis related diabetes
  20. 20. Fibrosis      Cystic Focal inspissation of bile Obstructs biliary ductules Second leading cause of death in CF Prevalence 9-37% Spectrum of disease     increased liver enzymes biliary cirrhosis portal hypertension GB stones
  21. 21. Fibrosis  Pancreatic insufficiency   ―cystic fibrosis of the pancreas‖---mucus plugging of glandular ducts Chloride impermeability affects HCO3- secretion and fluid secretion in pancreatic ducts Cystic  Pancreatic enzymes stay in ducts and are activated intraductally    Autolysis of pancreas Inflammation, calcification, plugging of ducts, fibrosis Malabsorption   Failure to thrive Fat soluble vitamin deficiency(ADEK)
  22. 22. Fibrosis  Men  Cystic  Abnormal embryologic development of the epididymal duct and vas deferens-incomplete or absent Congential bilateral absence of vas deferens—97-98% of men with CF
  23. 23. Fibrosis  Cystic  Women  Lower fertility rate than non-CF women  Viscid mucoid cervical secretions of low volume in women with CF Pregnancy and CF:  Goss et al, 2003---no significant difference in survival in women who became pregnant with CF compared to women who did not become pregnant (after adjusting for disease severity)  Fertility is mildly impaired
  24. 24. Fibrosis  Dr. Paul di Sant’ Agnese  1949 NYC heat wave----noted CF infants to have a higher rate of heat prostration than non-CF Showed that sodium and chloride concentration in CF patients’ sweat was 5 times higher than in non-CF  Became basis for sweat chloride test(1953) Cystic 
  25. 25. CF: Diagnostic Methods
  26. 26. Fibrosis    Cystic  One or more clinical features of CF OR A history of CF in a sibling OR A positive newborn screening test Plus Laboratory evidence for CFTR dysfunction: Two elevated sweat chloride concentrations obtained on separated days OR Identification of two CF mutations OR An abnormal nasal potential difference measurement
  27. 27.  First described by Gibson and Cooke,1950    Chemical that stimulates sweating placed under electrode pad; saline under other electrode pad on arm Mild electric current is passed between electrodes Sweat collected(75100gm)
  28. 28. Fibrosis    Positive Sweat chloride: 60-165 meq/L Borderine sweat chloride: 40-60 meq/L Normal sweat chloride: 0-40  False positives:       Cystic   Hypothyroidism Addison disease Ectodermal dysplasia Glycogen storage disease Edema Malnutrition Lab error (evaporation or contamination of sample) False negatives:     Edema Malnutrition Some CF mutations Sample diluted
  29. 29. Fibrosis Cystic  DNA testing- 30–80 of CFTR mutations. This identifies ≥90% who carry 2 CF mutations   increased potential differences across nasal epithelium with reference to forearm loss of potential difference with topical amiloride application is more in CF
  30. 30. Fibrosis      Cystic Pancreatic function  Fat estimation in stool OGTT Pulmonary radiologic finding Pulmonary function Microbiologic studies
  31. 31. Fibrosis Cystic  American College of Obstetricians and Gynecologists recommended offering prenatal screening for CF   Carrier testing of 23 most common mutations Sensitivity of prenatal screening for CF among the white population <78% lower than that for newborn screening  sensitivity of prenatal testing in racial and ethnic minority populations is lower 
  32. 32. Fibrosis Cystic   More than 1604 mutation identified 2 CFTR mutations in association with symptom is diagnostic
  33. 33. Fibrosis Cystic  Goal: early diagnosis may be associated with better nutritional outcome  Immunoreactive trypsinogen usually first followed by either sweat or DNA testing
  34. 34. CF: Treatment
  35. 35. Fibrosis Cystic        Pulmonary Therapy Inhalation Therapy Airway Clearance Therapy Infection-Antibiotic Therapy—  Oral  Aerosolized  IV Bronchodilator Antiinflammatory Endoscopy & lavage
  36. 36. Fibrosis       Cystic Nutrition  Gastrointestinal & Rx of complication Infertility Others     Diet Pancreatic enz replacement Vitamins Nasal polyp Rhinosinusitis Salt depletion Growth & maturation Social Issues
  37. 37. Fibrosis     Cystic      Atelactasis Hemomptysis Pneumothorax Allergic aspergilosis Nontuberculous mycobactria infection Bone & joint complication Sleep-Disordered Breathing Acute Respiratory Failure Chronic Respiratory Failure
  38. 38. Fibrosis   Heart Failure Nutritional therapy.   Cystic     Follow nutrition parameters closely Pancreatic enzymes Vitamin supplementation Other nutritional supplementation Tube feedings High calorie supplemental shakes, formulas
  39. 39. Fibrosis   Distal Intestinal Obstruction Syndrome Gastroesophageal Reflux Rectal Prolapse Heptobiliary Disease Pancreatitis Hyperglycemia. Nasal Polyps Rhinosinusitis. Salt Depletion Growth and Maturation  Surgery.      Cystic Meconium Ileus.    
  40. 40. Fibrosis      Cystic Follow nutrition parameters closely Pancreatic enzymes Vitamin supplementation  Porcine extract, 2000U/kg/meal TheraCLEC-Total, micro derived under t ADEK Other nutritional supplementation   Tube feedings High calorie supplemental shakes, form
  41. 41. Fibrosis Cystic     Microsurgical epididymal sperm aspiration coupled plus in vitro technology Percutaneous epididymal sperm aspiration Testicular sperm extraction Maternal genetic testing
  42. 42. Fibrosis  Quality of life    Cystic     Frequent hospitalizations Time spent on therapies Morbidity from disease Restrictions secondary to disease Adherence to therapies Family planning End of life issues
  43. 43. Fibrosis     Cystic Mucolytic- Antibiotics- Inhaled TOBI   Pulmozyme -to thin mucus Dornase alfa- enzyme hydrolyse DNAimprove airway clearance Cayston- Aztreonam, monobactem AB inhaled for p. aeruginosa Antioxidant
  44. 44.  ACTs loosen thick, sticky lung mucus      move mucus from small to large airways to be coughed or huffed out. Coughing is the most basic ACT. Huffing is a type of cough. involves taking a breath in and actively exhaling. It is more like ―huffing‖ onto a mirror or window to steam it up Chest Physio Therapy Oscillating Positive Expiratory Pressure (Oscillating PEP) an ACT where the person blows all the way out many times through a device named FlutterTM, AcapellaTM, CornetTM and Intrapulmonary Percussive Ventilation (IPV). Breathing with devices
  45. 45.  High-frequency Chest Wall Oscillation  Positive Expiratory Pressure (PEP)  Active Cycle of Breathing Technique (ACBT) It gets air behind mucus, lowers airway spasm and clears mucus.
  46. 46.    Thoracic expansion exercises – deep breaths in.  done with chest clapping or vibrating, followed by breathing control. Forced expiration technique – huffs of varied lengths with breathing control. Autogenic Drainage (AD) means ―self-drainage.‖  uses varied airflows to move mucus.  aims to reach very high airflows in different lung parts. This moves mucus from small to large airways.
  47. 47. Fibrosis Cystic  Lung Transplant    900 LT /year in USA 1600 received LT from 1991 2003– 17 pts received from living donor & 126 from cadaveric lung transplant
  48. 48.    Gene therapy is the use of normal DNA to "correct" for the damaged genes that cause disease. In the case of CF, gene therapy involves inhaling a spray that delivers normal DNA to the lungs. The goal is to replace the defective CF gene in the lungs to cure CF or slow the progression of the disease.
  49. 49. ThankYou !

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