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Cystic Fibrosis

Cystic Fibrosis. Question 6. What are the odds of a healthy sibling of someone with CF being a carrier? A. 1/2 B. 2/3 C. 1/3 D. 3/4. Cystic Fibrosis. Most common life-shortening genetic disease among white North americans 1/3300 Carrier 1/30 African Americans 1/17,000 Asian

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Cystic Fibrosis

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  1. Cystic Fibrosis

  2. Question 6 What are the odds of a healthy sibling of someone with CF being a carrier? A. 1/2 B. 2/3 C. 1/3 D. 3/4

  3. Cystic Fibrosis • Most common life-shortening genetic disease among white North americans • 1/3300 • Carrier 1/30 • African Americans • 1/17,000 • Asian • 1/35,000-50,000

  4. Cystic Fibrosis • AR • CF gene • CFTR – epithelial chloride channel • Abnormally viscid and poorly hydrated secretions • Most common mutation • Delta-F508

  5. Cystic Fibrosis • Median age of survival • 35.1y • Exocrinopathy • Inspissation of abnormally thick secretions • Lungs • Pancreas

  6. Cystic Fibrosis • Lungs • Impaired airway clearance • Retention of bacteria • Chronic infection • Chronic inflammation • Gradual decline in function • Accounts for majority of deaths

  7. Cystic Fibrosis • Pancreas • Obstruction of ducts • Dietary fat and protein not broken down • Autodigestion • Scar tissue • Exocrine deficiency • 40-50% of newborns with CF • Hypoproteinemia • Fat soluble vitamin deficiencies

  8. Cystic Fibrosis Presentation • Meconiumileus • 5-10% • Intestinal obstruction of the newborn • Distention • Bilious vomiting • Failure to pass meconium • Xray • Dilated loops • Ground glass or soap bubble

  9. Cystic Fibrosis Presentation • MeconiumIleus • Barium or water-soluble contrast enema • Small distal colon • Prenatal rupture • Abdominal calcifications

  10. Cystic Fibrosis Presentation • Poor weight gain • Loose, foul-smelling bulky stools • Voracious appetite • Rectal prolapse • 5%

  11. Cystic Fibrosis Presentation • Chronic productive cough • Chronic wheezing • Digital clubbing • Recurrent PNA • Recurrent sinus disease • Nasal polyps • 20%

  12. Cystic Fibrosis • Persistent symptoms • Loose, productive cough • May have blood-tinged sputum • May signify acute infection • Tachypnea • Dyspnea • Diffuse crackles • Digital clubbing • Barrel chest

  13. Question 7 A patient with known CF presents to the ER with the complaint of acute onset of chest pain and shortness of breath. CXR is pictured. What is the diagnosis? A. Pneumonia B. Pneumomediastinum C. Pneumothorax D. Bronchiectasis E. Corpulmonale

  14. Cystic Fibrosis Complications Hypochloremic metabolic alkalosis Hemoptysis Pneumothorax Pneumomediastinum Hypertrophic pulmonary osteoarthopathy Distal intestinal obstructive syndrome Biliary cirrhosis Pancreatitis Corpulmonale Respiratory failure

  15. Diagnosis • NBS • Elevation of serum trypsinogen • Sweat Test • Gold standard • >60 mEq/L • 40-60 mEq/L • Repeat • Genetic Testing

  16. Treatment • Acute • Aminoglycoside and a PCN derivative that attacks pseudomonas • At CHNOLA • Ceftaz • Timentin + Tobramycin • Timentin + Gentamicin • Consider aerosolized Abx

  17. Treatment • Chronic • Enzymes • ADEK • Treatments • Bronchodilators • Pulmozyme • Aggressive vibratory CPT

  18. Question 8 You are counseling a new mom in the hospital before she brings her healthy, term newborn baby home. The mother asks about the benefit of using an over-the-counter apnea monitor that she saw at Babies-R-Us. What do you tell her? A. A home apnea monitor is of no value in preventing SIDS B. You highly suggest it, since home apnea monitors have been proven to prevent SIDS C. The best thing she can do for her baby is to lay the infant prone while sleeping D. She is worrying over nothing, her baby is not at risk for SIDS

  19. SIDS

  20. SIDS • Definition • Unexpected death • <1y • Otherwise healthy • Negative autopsy • 0.2/1000 live births • Leading cause of death after neonatal period • Peak at 2-4 months • Rare after 6 months

  21. SIDS • Cause • Final common pathway • Long-QT • IEM • Smothering • Apnea hypothesis discarded • Home apnea monitor is of no value in preventing SIDS • True cause unknown

  22. SIDS • Risk Factors • Parental smoking • Prone sleep position • Overheated room • Co-sleeping • Low income families • Cold weather • Young parents • Prevention • Back to sleep • Parental smoking outside the home and not in the car

  23. ALTE • Definition • Witnessed event • Frightening to observer • Combination of . . • Apnea • Color change • Change in tone • Choking or gagging • Intervention • Peaks at 2-3 months • Risk reduced after 6 months

  24. ALTE • Causes • GER • Single most common cause • Sepsis/Meningitis • IEM • Seizure • Pertussis • RSV • CHD • Poisoning • Child abuse

  25. ALTE • Work Up • ECG • Lytes • Glucose • Ammonia • Blood culture • CBC • Blood gas • Tox • Head CT • Sleep study • pH probe

  26. Apnea

  27. Question 9 A one month old infant with Pierre-Robin sequence has arrived to your clinic for follow up after discharge from the NICU 1 week ago. The mother is concerned because although the apnea monitor has not gone off, he does not appear to be getting any air in on some of his breaths while asleep. What do you tell the mother? A. If the apnea monitor has not gone off, there is no apnea and she should not worry. B. He most likely has central apnea. C. He most likely has obstructive apnea. D. He should be emergently evaluated for pulmonary HTN

  28. Apnea • Definition • Absence of airflow ≥20 secs OR • Apnea associated with cyanosis or bradycardia • Periodic Breathing • Recurrent brief pauses <20 sec • May be brief drop in HR but no bradycardia • Types • Central • Obstructive • Most common • Mixed

  29. Obstructive Sleep Apnea Normal Upper Airway Anatomy Abnormal Upper Airway Anatomy • Obesity • GER • Sickle cell anemia • Laxity of the supraglottic structures • Marked adenoidal or tonsillar enlargement • Crouzon syndrome • Apert syndrome • Down syndrome • Treacher Collins syndrome • Pierre Robin sequence • Arnold-Chiari malformation • Prader-Willi • Mobius syndrome • Dwarfism

  30. Obstructive Sleep Apnea • Symptoms • FTT • Hyperactivity • Diagnosis • Sleep study • Further Work Up • Pulmonary HTN • Cardiac Echo • ECG

  31. Obstructive Sleep Apnea • Management • Apnea monitor • Will not help since chest wall moves • Correct underlying disorder • CPAP

  32. Central Apnea • Risk Factors • Seizure disorders • CNS pathology • Arnold-Chiari • IVH • Prematurity • Congenital Hypoventilation Syndrome • Ondine’s curse

  33. Apnea • Work Up • Responses to hypercapnia or hypoxia • CXR • EEG • Head CT • pH probe • Bronchoscopy

  34. Aspiration

  35. Aspiration • Causes • Incoordination of swallowing • GER • More common in patients with neurologic impairment • Complications • Mixed restrictive-obstructive pulmonary disease • Difficult to control asthma

  36. Aspiration • Suspect • Poorly controlled asthma despite aggressive management • Risks • Delayed gastric emptying • GER • Achalasia

  37. Aspiration • Diagnosis • Modified barium swallow • Thin vs paste vs solid • Phases of the swallowing cycle • Salivagram • Tube fed individuals

  38. Aspiration • Diagnosis • Gastric emptying scan • Reflux (insensitive) • Delayed gastric emptying • Bronchoscopy with BAL • Lipid-laden macrophages • Inspection

  39. Diagnostic techniques

  40. PFTs • ≥ 6 years • Account for • Variability in performance • Age • Height • Weight • Sex • Race • Use • Establishing severity • Guiding choice of therapy • Measuring response to therapy

  41. Question 10 You are seeing a patient in the ER who is in moderate respiratory distress. You strongly suspect there is an aspirated foreign body based on your physical exam and some preliminary studies. Who do you call?? Pulmonary for flexible bronchoscopy Surgery for open removal Surgery for rigid bronchoscopy No one, you should do a blind finger sweep

  42. Flexible Bronchoscopy • Indicated • Stridor • Unexplained or chronic cough or wheeze • Suspected airway malformationsor compression • Atelectasis • PNA • Isolating organisms • Contraindicated • Foreign body • Better visualization of distal airways and upper lobes

  43. Sleep Studies Nocturnal polysomnography Pneumogram • Sleep stage • Movement of chest • Abdomen • Electromyogram of diaphragm • Arterial saturation • Heart rate • End-tidal CO2 • Eye movements • Chest wall movement • Air flow by nasal thermistor • Heart rate • Arterial saturation • Central apnea and bradycardia

  44. Pulse Oximetry • Limitations • (Reasons to order Co-Oximetry) • Carboxyhemoglobin • Carbon monoxide • Pulse ox will overestimate the level of oxyhemoglobin • Methemoglobin • Inconsistent and unreliable values • Non-cardiac cause of cyanosis • “chocolate” colored blood • Impaired perfusion

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