I m still breathing Pediatric Board Review

1. �I�m still breathing�Pediatric Board Review  Michael G. Marcus, M.D. Dir. Pediatric Pulmonology/Allergy Maimonides Infants & Children�s Hospital Maimonides Medical Center April Wazeka, M.D. Respiratory Center for Children Goryeb Children�s Hospital Assistant Professor of Pediatrics UMDNJ-New Jersey Medical School Diplomate in Sleep Medicine

3. Case Presentation #1 A 5 year old male presents to your office with a chronic cough Cough is productive, increased at night, recurrent Worse with exercise and with upper respiratory infections Growth has been normal Chest xray findings are normal except for mild hyperinflation

4. Differential Diagnosis: Which is the MOST likely diagnosis? Sinusitis Asthma Gastroesophageal reflux disease Tuberculosis Cystic Fibrosis Psychogenic cough

5. Asthma: Overview Chronic inflammatory disease of the airway Affects 20 million people in the US (6.1million children) Prevalence has increased by almost 40% in all ages in the past decade. Typically develops in childhood-50% before 3 years of age, and the majority before 8 years of age. Boys>Girls until puberty, then greater in Girls 470,000 hospitalizations per year

6. Pathogenesis Airway inflammation also contributes to airflow limitation, which includes: Bronchoconstriction Edema Chronic mucus plugging Airway wall remodeling All this leads to bronchial obstruction

9. All of the following are asthma Risk Factors EXCEPT:

10. History Cough Wheezing Shortness of breath, particularly with exercise Chest pain or tightness �Difficulty catching my breath� Vomiting, particularly mucus

11. Physical Exam Wheezing Crackles in the lung Muscle retractions Often can be normal

12. Pulmonary Function Testing Determines Presence or absence of asthma Asthma degree Lung function Other lung disorders

13. Pulmonary Function Testing

14. Flow Volume Loops Normal

15. Diagnostic Evaluation Chest xray Immunoglobulins Identify allergic components Rule out associated immunodeficiencies Skin testing/RAST testing for allergies Sweat test to rule out Cystic Fibrosis

16. Assessing Asthma Severity:Impairment Domain Nighttime awakening Need for SABAs for quick relief of symptoms Work/school days missed Ability to engage in normal daily activities or desired activities QOL assessments Assessing Asthma Severity: Impairment Domain Key Point: Impairment is one of the domains used to assess control and severity. Impairment refers to the frequency and intensity of symptoms and functional limitations either currently being experienced or recently experienced1 Assessment of the impairment domain requires a careful and detailed history from the patient as well as lung function measurement1 Signs and symptoms that should be assessed include nocturnal awakenings; the need for rescue medication; missed days of work or school; the ability to engage in normal daily activities or desired activities; and general quality-of-life assessments1 Lung function should be assessed through spirometry, including forced expiratory volume in one second (FEV1), FEV in 6 seconds (FEV6) or forced vital capacity (FVC), and FEV1/FVC (or FEV6 in adults). Peak flow is not reliable for assessing severity, but may be useful in assessing control on an ongoing basis1 It is not uncommon to encounter patients who report few symptoms but who have a severely reduced FEV1 and only recognize the extent of their impairment after treatment has relieved it1,2Assessing Asthma Severity: Impairment Domain Key Point: Impairment is one of the domains used to assess control and severity. Impairment refers to the frequency and intensity of symptoms and functional limitations either currently being experienced or recently experienced1 Assessment of the impairment domain requires a careful and detailed history from the patient as well as lung function measurement1 Signs and symptoms that should be assessed include nocturnal awakenings; the need for rescue medication; missed days of work or school; the ability to engage in normal daily activities or desired activities; and general quality-of-life assessments1 Lung function should be assessed through spirometry, including forced expiratory volume in one second (FEV1), FEV in 6 seconds (FEV6) or forced vital capacity (FVC), and FEV1/FVC (or FEV6 in adults). Peak flow is not reliable for assessing severity, but may be useful in assessing control on an ongoing basis1 It is not uncommon to encounter patients who report few symptoms but who have a severely reduced FEV1 and only recognize the extent of their impairment after treatment has relieved it1,2

17. Assessing Asthma Severity:Risk Domain Likelihood of asthma exacerbations, progressive decline in lung function, or risk of adverse effects from medications Assessment Frequency and severity of exacerbations Oral corticosteroid use Urgent-care visits Lung function Noninvasive biomarkers may play an increased role in future Assessing Asthma Severity: Risk Domain Key Point: The assessment of the domain of risk includes evaluation of risk of future asthma exacerbations, progressive decline in lung function (or reduced lung growth for children), or the risk of adverse effects from medication1 The greatest risk is from future exacerbations, which account for death and distress, loss of time from work and school, and much of the cost of asthma care2 Predictors of increased risk of future exacerbations include a history of previous severe exacerbations, especially those leading to intubation or ICU admission1-4 An additional marker of risk of exacerbations is reduced FEV1, indicating severe airflow obstruction1,2 Markers of airway inflammation are under investigation as possible indicators of increased risk. These include, but are not limited to, measurements of blood or sputum eosinophils, fractional exhaled nitric oxide (NO), serum eosinophil cationic protein (ECP) levels, or urinary leukotrienes1,2 Measurements of nonspecific bronchial reactivity may help estimate the risk of exacerbations in response to environmental triggers2Assessing Asthma Severity: Risk Domain Key Point: The assessment of the domain of risk includes evaluation of risk of future asthma exacerbations, progressive decline in lung function (or reduced lung growth for children), or the risk of adverse effects from medication1 The greatest risk is from future exacerbations, which account for death and distress, loss of time from work and school, and much of the cost of asthma care2 Predictors of increased risk of future exacerbations include a history of previous severe exacerbations, especially those leading to intubation or ICU admission1-4 An additional marker of risk of exacerbations is reduced FEV1, indicating severe airflow obstruction1,2 Markers of airway inflammation are under investigation as possible indicators of increased risk. These include, but are not limited to, measurements of blood or sputum eosinophils, fractional exhaled nitric oxide (NO), serum eosinophil cationic protein (ECP) levels, or urinary leukotrienes1,2 Measurements of nonspecific bronchial reactivity may help estimate the risk of exacerbations in response to environmental triggers2

18. Classifying Asthma Severity and Initiating Treatment in Youths =12 Years of Age and Adults Classifying Asthma Severity and Initiating Treatment in Youths =12 Years of Age and Adults Key Point: Initial assessment of asthma severity is based on measurement of impairment and risk, and helps to determine the initial level of therapy in patients who are not currently receiving long-term controller medication Assessments of asthma severity based on impairment and risk are recommended for patients who are not being treated with controller medication. In patients on controller medication, severity should be assessed by the lowest level of treatment needed to maintain control Impairment is assessed based on the patient�s or caregiver�s recall of symptoms, nocturnal awakenings, SABA rescue use, and interference with normal activities over the past 2 to 4 weeks, as well as spirometry. Severity is classified based on the most severe category in which any feature appears Assessment of risk is based on the frequency and intensity of exacerbations requiring oral corticosteroids. For treatment purposes, 2 or more exacerbations requiring oral systemic corticosteroids annually may be considered the same as persistent asthma regardless of the absence of impairment levels consistent with persistent asthma. Currently, there are insufficient data to associate frequency of exacerbations with various levels of asthma severity. In general, more frequent and intense (eg, requiring urgent/unscheduled care, hospitalization, or ICU admission) exacerbations may indicate more severe underlying asthma Initial severity classification determines the recommended step at which to initiate therapy. The clinician must also assess individual patient needs in making treatment decisions Patients with intermittent asthma should start therapy at Step 1, patients with mild persistent asthma should start at Step 2, patients with moderate persistent asthma should start at Step 3, and patients with severe persistent asthma should start therapy at Step 4 or Step 5. A short course of oral corticosteroids should be considered for patients with moderate or severe asthmaClassifying Asthma Severity and Initiating Treatment in Youths =12 Years of Age and Adults Key Point: Initial assessment of asthma severity is based on measurement of impairment and risk, and helps to determine the initial level of therapy in patients who are not currently receiving long-term controller medication Assessments of asthma severity based on impairment and risk are recommended for patients who are not being treated with controller medication. In patients on controller medication, severity should be assessed by the lowest level of treatment needed to maintain control Impairment is assessed based on the patient�s or caregiver�s recall of symptoms, nocturnal awakenings, SABA rescue use, and interference with normal activities over the past 2 to 4 weeks, as well as spirometry. Severity is classified based on the most severe category in which any feature appears Assessment of risk is based on the frequency and intensity of exacerbations requiring oral corticosteroids. For treatment purposes, 2 or more exacerbations requiring oral systemic corticosteroids annually may be considered the same as persistent asthma regardless of the absence of impairment levels consistent with persistent asthma. Currently, there are insufficient data to associate frequency of exacerbations with various levels of asthma severity. In general, more frequent and intense (eg, requiring urgent/unscheduled care, hospitalization, or ICU admission) exacerbations may indicate more severe underlying asthma Initial severity classification determines the recommended step at which to initiate therapy. The clinician must also assess individual patient needs in making treatment decisions Patients with intermittent asthma should start therapy at Step 1, patients with mild persistent asthma should start at Step 2, patients with moderate persistent asthma should start at Step 3, and patients with severe persistent asthma should start therapy at Step 4 or Step 5. A short course of oral corticosteroids should be considered for patients with moderate or severe asthma

19. Treatment Bronchodilators Short-acting (Albuterol, Pirbuterol) Long-acting (Serevent, Foradil) Leukotriene modifiers (Montelukast) Inhaled corticosteroids Systemic steroids (acute exacerbation) Methylxanthines (Theophylline) Cromolyn

20. Treatment�Inhaled Steroids Inhaled corticosteroids are standard of care for all categories except for mild intermittent asthma Long term prevention of symptoms; suppression, control and reversal of inflammation. Block late reaction to allergen Reduce airway hyperresponsiveness Inhibit inflammatory cell migration and activation Increase B2 receptor affinity

21. Inhaled Steroids Budesonide (Pulmicort�) Fluticasone (Flovent�) Mometasone (Asmanex�) Fluticasone + Serevent (Advair�) Budesonide +Foradil (Symbicort�) Beclomethsasone (Qvar�)

22. All of the following are side effects of inhaled steroids EXCEPT: Cough Hoarse voice Rash Oral thrush. Adrenal suppression Growth suppression Osteoporosis

23. Asthma and Exercise Exercise can trigger asthma Symptoms are worse with cold, dry air However, exercise helps lungs function better and prevents obesity As long as asthma is well-controlled and a short-acting bronchodilator (rescue medicine) is used beforehand, children with asthma should be able to do sports Pulmonary function testing best first test; then exercise testing.

25. Case # 2 A 4-month-old infant boy is brought to the Emergency Room because of lethargy. Physical Examination Afebrile HR 160 bpm RR 50 breaths/min HbSaO2: 98% on RA Weight: 3.2 kg GENERAL : Very thin, appearing to be malnourished; Lethargic but arousable HEENT : dry mucous membranes CHEST : equal breath sounds; diffuse ronchi ABDOMEN : distended; no organomegaly SKIN : decreased turgor and elasticity NEUROLOGIC : poor muscle tone; poor suck

26. Past Medical History: Which are the most relevant aspects ? Perinatal history Immunization record Social/Environmental history Family History Nutrition and Growth

27. Case # 2 PMHx: Born at term; No problems at birth. Hospitalized at 1 month of age for pneumonia; Chronic cough; Frequent vomiting and diarrhea Immunizations: None Social Hx: The family lives in a small, poor island of the Carribean FHx: An older sibling died at 1 year of age from unknown illness Nutrition & Growth: breast fed; used to have good appetite but it got progressively worse; poor weight gain in the beginning; actual weight loss lately

29. SWEAT TEST Sweat Chloride: 78.12 mmol/L Normal <40 mmol/L Borderline 40-60 mmol/L Abnormal >60 mmol/L *However, in infants anything >30 should be repeated and worked up

30. OVERVIEW OF CYSTIC FIBROSIS Genetics: Autosomal-recessive genetic disease caused by mutations in chromosome 7. The CF gene codes for a protein called the CF Transmembrane Regulator (CFTR) There are over 2000 known mutations; however 50% of the patients are homozygous for the ?508 mutation Genetic testing for the 30 most frequent mutations is sensitive for the genotype of up to 90% of Americans Incidence: varies significantly among racial groups Caucasians: ~1/377-3500 live births Blacks : ~1/17,000 live births (US) Asians : ~1/90,000 live births (Hawaii)

31. Pathophysiology of CF The CFTR controls the Cl conductance in the epithelial cells (via the cAMP). The epithelial cells are unable to secrete salt and water on the airway surface. Thus, they can not hydrate secretions that in turn become viscous and elastic and difficult to be cleared by the mucociliary mechanisms. Similar events may take place in the pancreatic and biliary ducts as well as in the vas deferens. Because the sweat glands absorb chloride, salt is not retrieved from the primary sweat as it is transported to the skin surface and as a result its sodium and chloride levels are elevated.

32. Presenting Features of CF

33. All the following are criteria for the Dx of CF except: Typical clinical features (e.g. cough, FTT) History of CF in a sibling A positive newborn screening testing 2 sweat chloride concentrations of 20 and 24 mEq/L Identification of 2 CF mutations Abnormal nasal potential difference

34. All the following are common manifestations of CF except: Cough (productive) Bulky, greasy stools with droplets of fat Diabetes Meconium ileus Recurrent fever Constipation Azoospermia Biliary cirrhosis Pancreatitis

35. Common Respiratory Pathogens in CF Staph Aureus Non-typable Haemophilus Influenza Pseudomonas Aeruginosa Burkholderia cepacia Also: Candida Aspergillus Fumigatus Nontuberculous Mycobacteria

36. Signs and Symptoms of a Pulmonary Exacerbation in CF SYMPTOMS Increased frequency and duration of cough Increased sputum production and change in appearance Increased shortness of breath Decreased exercise tolerance SIGNS Increase in respiratory rate Appearance of ronchii and crackles Decline in indices of pulmonary function Weight loss Chest wall retractions New infiltrate in Chest X-ray

37. CF: Newborn Screening Assessment of Immunoreactive trypsinogen (IRT) Confirmation of Positive IRT (>140ng/ml) by CF gene mutation analysis Confirmation of results with a sweat test

39. Case Study #3 BG �A� is an ex-24 week preemie with BPD, a history of a PDA, and apnea of prematurity, who is now preparing to be discharged home from the NICU She is now 4 months of age (41 weeks gestational age) She still has occasional apneic episodes, mostly occurring with feeds, with desats to the 80s and bradycardia Baseline oxygen saturations are normal

40. Apnea of Infancy Unexplained episode of cessation of breathing for 20 seconds or longer, or a shorter respiratory pause associated with bradycardia, cyanosis, pallor, and/or marked hypotonia *Usually refers to infants with gestational age of 37 weeks or more at the onset of apnea

41. Apnea of Prematurity Sudden cessation of breathing that lasts for at least 20 seconds or is accompanied by bradycardia or oxygen desaturation (cyanosis) in an infant younger than 37 weeks gestational age. Usually ceases by 37 weeks postmenstrual age, but may persist for several weeks beyond term. Extreme episodes usually cease at 43 weeks postconceptional age.

42. Apparent Life-Threatening Event (ALTE) Episode in an infant that is frightening to the observer and is characterized by some combination of: Apnea (central or occasionally obstructive) Color change Unresponsiveness Change in muscle tone, choking, or gagging

43. SIDS Sudden death of an infant under 1 year* of age that remains unexplained after a thorough investigation, including autopsy, examination of the death scene, and review of the clinical history *Risk much lower >6mos of age

44. Risk Factors for SIDS Sleeping in prone position Co-sleeping Smoking Low socioeconomic status Cold weather Young parents *Apnea appears to resolve at a postnatal age before which most SIDS deaths occur and apnea is not a predictor or a precursor to SIDS

45. Prematurity Preterm infants at greater risk of extreme apnea episodes Risk decreases with time, ceasing at approximately 43 weeks postmenstrual age In infants with recurrent, significant apnea, monitoring may be considered

46. AAP Recommendations 2003 Home monitors should not be prescribed to prevent SIDS Home monitors may be warranted for premature infants who are at high risk of recurrent episodes of apnea, bradycardia, and hypoxemia after hospital discharge. However, the use of home monitors should be limited to approximately 43 weeks postmenstrual age or after the cessation of extreme episodes, whichever comes last

47. AAP Recommendations 2003 Parents should be advised that home monitoring has not been proven to prevent SIDS Pediatricians should continue to promote proven practices that decrease the risk of SIDS�supine sleep position, safe sleeping environments, and elimination of prenatal and postnatal exposure to tobacco smoke American Academy of Pediatrics Policy Statement, Apnea, Sudden Infant Death Syndrome, and Home Monitoring. Pediatrics. April 2003; 111 (4): 914-917

48. Obstructive Sleep Apnea Disorder of breathing during sleep characterized by prolonged partial upper airway obstruction and/or intermittent complete obstruction (obstructive apnea) that disrupts normal ventilation during sleep and normal sleep patterns American Thoracic Society. Standards and indications for cardiopulmonary sleep studies in children. Am J Resp Crit Care Med. 1996; 153:866-878

49. Airway Obstruction during Sleep Combination of structural and neuromuscular factors Dynamic process Site of airway collapse in children most often at level of the adenoid

50. All of the following are risk factors for obstructive sleep apnea EXCEPT: Adenotonsillar hypertrophy Obesity Craniofacial anomalies Gastroesophageal reflux disease Neuromuscular disorders

51. Prevalence of OSAS Children of all ages Most common in preschool-aged children (age at which tonsils and adenoids are the largest in relation to the underlying airway size) Estimated prevalence rates of approximately 2% Ali NJ, Pitson DJ, Stradling JR. Snoring, sleep disturbance, and behaviour in 4-5 year olds. Arch Dis Child. 1993; 68:360-366.

52. Symptoms Habitual nightly snoring Disturbed sleep Daytime neurobehavioral problems Think about it with ADHD Daytime sleepiness may occur, but is uncommon in young children

53. Case Presentation #4 Six year old female presents to the ER after a one week history of nasal congestion and mild cough. Two days ago, she developed high fevers, chills, and increased cough. Upon arrival in the ER, she is ill-appearing, tachypneic, and febrile. PE: Rales are appreciated on exam over right posterior lung fields.

54. Case Presentation #4 PMHx: No prior pneumonia or wheezing FHx: +Asthma (brother) ALL: NKDA IMM: Missing part of primary series; no recent ppd done. SHx: No recent travel out of the country. Laboratory: WBC 35,000

55. Radiographic Findings

56. Definition: Pneumonia An inflammation of the lung parenchyma

57. Which is the MOST likely causative organism in this patient? Group B strep Streptococcus pneumoniae Tuberculosis Mycoplasma Legionella

58. Background More than 2 million children die annually of pneumonia worldwide Mortality rare in the developed world In U.S., 35-40 episodes of community-acquired pneumonia /1,000 children per year Respiratory viruses most common cause of pneumonia during the first years of life

59. Pathophysiology Most common event disturbing lung defense mechanisms is a viral infection Alters properties of normal lung secretions Inhibits phagocytosis Modifies normal bacterial flora Often precedes development of a bacterial pneumonia by a few days

60. Factors Predisposing to Pneumonia Agammaglobulinemia CF Cleft palate Congenital bronchiectasis Ciliary dyskinesis TEF Immunodeficiency Neutropenia Increased pulmonary blood flow Deficient gag reflex Trauma Anesthesia Aspiration

61. Organisms Neonates E.coli Group B strep H. influenzae S. pneumoniae Listeria Anaerobes Infants S. pnemoniae S. aureus Moraxella catarrhalis H.influenzae

62. Organisms Preschool age S. pneumoniae Moraxella H. Influenzae Neisseria meningitidis School age and adolescent S. pneumoniae Mycoplasma C.pneumoniae (TWAR) Legionella

63. Clinical Sxs Shaking chills High Fever Cough Chest pain Mild URI sxs Decreased appetite Abrupt onset high fever Respiratory distress Cyanosis *Pattern more variable in infants and young children and PE often unrevealing

64. Physical Exam Retractions Dullness to percussion Tubular breath sounds Rales Diminished tactile and vocal fremitus Decreased breath sounds Laboratory Leukocytosis with left shift WBC <5,000/mm3 poor prognosis ABG: hypoxemia Bacteremia on blood culture

65. Complications Empyema�pus in the pleural space Pleural effusion Pericarditis Meningitis Osteomyelitis Metastatic abscesses *Antibiotic therapy has reduced spread of infection Pre-antibiotic era mortality rate high in infants

66. Pleural Effusion

67. Therapy Decision to hospitalize based on severity of the illness and home environment Patients with empyema or pleural effusion should be hospitalized Oxygen Thoracentesis Decortication

68. Empiric Therapy Neonates Rule out sepsis Parenteral antibiotics Ampicillin Cefotaxime or Gentamicin Consider viral causes (HSV, CMV) Infants Should use parenteral initially Ampicillin/sulbactam Or Cefuroxime Or Ceftriaxone Once stabilized, can give Augmentin for total of 10 day course

69. Empiric Therapy: School Age and Adolescent Ampicillin or IV Penicillin G if hypoxemic or unstable Ceftriaxone or a macrolide can be added if concerns about resistance or lack of improvement in clinical status Oral Augmentin if stable Macrolide if suspicion of mycoplasma or TWAR

70. Follow-Up Most children have normal xrays by 2-3 months after acute infection* 20% with residual changes 3-4 weeks after infection Children with persistent symptoms should have follow-up xrays to rule out such things as foreign body, congenital malformations, or TB *Grossman et al. Roentgenographic follow-up of acute pneumonia in children. Pediatrics 1979; 63:30-31

72. Case #5 A 2-month-old infant boy is brought to the Emergency Room because of persistent cough and difficulty in breathing. On examination the infant has audible stridor, harsh, �honking� cough, and suprasternal and subcostal chest wall retractions

73. Overview Stridor is a harsh, high-pitched inspiratory sound produced by partial obstruction of the airway, resulting in turbulent airflow. It is associated with variable degrees of difficulty in breathing Usually associated with suprasternal retractions, and when severe with intercostal, subcostal and substernal as well.

74. Sites & Sounds of Airway Obstruction

75. Which are the most common cause(s) of stridor in a 2-month-old infant?  Infectious Trauma Congenital, idiopathic Neurologic disorders Airway hemangioma(s)

76. Neonatal History Developed cyanosis and respiratory distress during the first 24 of life Cardiac Echocardiogram revealed congenital cyanotic heart disease necessitating a Blalock-Taussig shunt He was intubated and mechanically ventilated until 10 days of life.

77. Which is the least likely cause for his stridor: A. Subglottic stenosis B. Vocal Cord Paralysis C. Pulmonary artery sling D. Idiopathic laryngomalacia E. Vascular ring

78. What would be the least useful test in determining the cause of the stridor ? High KV films of the airways (�Mag airways�) CT scan of the neck and chest Barium swallow Bedside flexible laryngoscopy Flexible fiberoptic bronchoscopy

79. Causes of Stridor in Infants & Children According to Site of Obstruction & Age

80. Laryngomalacia

81. Laryngocele

82. Laryngeal Cyst

83. Epiglottitis

84. Vocal Cord Paralysis

85. Subglottic Hemangioma Female:male is 2:1 Usually a submucosal lesion No color change or bluish discoloration Frequently associated with hemangiomas elsewhere on the body Stridor biphasic, increased with crying or valsalva

86. Laryngeal Cleft

87. Vascular Ring

89. Croup: Epidemiology Season: fall and early winter Gender: more common in boys Onset of symptoms: mostly at night Duration: from hours to several days

90. Recurrent (Spasmodic) Croup - Affects about 6% of children - Not associated with obvious infection - Abrupt onset, usually during sleep - Barking cough, hoarseness, stridor - Usually resolves within hours - May be a hypersensitivity reaction - Associated with airway hyperreactivity

92. CASE #6 15-month-old male infant with history of frequent respiratory infections, persistent cough and tachypnea of 6 months duration. Progressive exercise intolerance. Occasional wheezing and fever. PMH: unremarkable until onset of above symptoms; Normal growth until 1year of age; no weight gain for past 3-4 months FHx: Significant for asthma in his 5-year-old sister.

93. Physical Examination VS: T 37.3oC; HR 140 bpm RR 42 breaths/min HbSaO2: 91% on RA Wt: 10 kg (25th %ile) General : well nourished but thin child; tachypneic but not in distress Chest : symmetric with mild intercostal retractions; equal but somewhat decreased breath sounds bilaterally; scattered fine crackles Extremities: mild (1+) clubbing Chest X-ray: increased interstitial markings

94. Case #6What is your Differential Diagnosis? Asthma Cystic Fibrosis Dysmotile Cilia Syndrome Interstitial Lung Disease Immunodeficiency Tuberculosis

95. Interstitial Lung Diseases Heterogenous group of disorders of known and unknown causes but with common histologic characteristics

96. ILD : Epidemiology Prevalence: estimates range from 0.36/100,000 up to ~90/100,000 Affects slightly more males (1.4:1) Affects mostly Caucasians (88%) Affected siblings in about 10% of cases Parental consanguinity: 7% Most common in those <1 year of age

97. ILD : Symptoms & Signs SYMPTOMS Cough : 78% Tachypnea/Dyspnea : 76% Failure to thrive : 37% Fever : 20% SIGNS Crackles : 44% Cyanosis : 28% Clubbing : 13%

98. ILD : Clinical Classification (histologic pattern) - Idiopathic Pulmonary Fibrosis (UIP)* Nonspecific Interstitial pneumonia - Cryptogenic Organizing Pneumonia - Acute Interstitial Pneumonia (Diffuse alveolar damage) Respiratory Bronchiolitis* Desquamative Interstitial Pneumonia Lymphoid Interstitial Pneumonia * Cases have been reported only in adults

99. ILD: Other forms Alveolar hemorrhage syndromes Aspiration syndromes Drug or radiation induced disease Hypersensitivity pneumonitis Infectious chronic lung disease Pulmonary alveolar proteinosis Pulmonary infiltrates with eosinophilia Pulmonary lymphatic disorders Pulmonary vascular disorders OTHER SYSTEMIC DISORDERS Connective tissue diseases - Histiocytosis Malignancies - Sarcoidosis Neurocutaneous syndrome - Lipid storage diseases Inborn errors of metabolism

100. ILD : Unique forms in infancy Disorders of lung growth and development Neuroendocrine cell hyperplasia of infancy (persistent tachypnea of infancy) Follicular bronchiolitis Cellular interstitial pneumonitis/pulmonary interstitial glycogenosis Acute idiopathic pulmonary hemorrhage Chronic pneumonitis of infancy/genetic defects of surfactant function

101. Any child with cough and/or tachypnea lasting more than >3 months should be evaluated for possible ILD Most laboratory tests are rarely diagnostic but they are useful to exclude other diagnoses

102. Which of the following is the least useful test in this case ? A. Chest X-ray B. Chest CT C. Quantitative Immunoglobulins D. Panel for collagen vascular diseases E. Bronchoalveolar lavage F. Sweat test G. Lung Biopsy

103. ILD : Imaging Studies Plain chest X-rays are usually not helpful High resolution CT (HRCT) with thin sections (1 mm) is the best modality

104. ILD : Diagnostic Studies Pulmonary Function Tests - Restrictive pattern with decreased lung volumes , decreased lung compliance and markedly decreased diffusing capacity Bronchoalveolar Lavage Able to confirm only few disorders (e.g. infections, aspiration) but useful to rule out others (e.g. hemorrhage) Lung Biopsy: it�s the most definitive of the studies. Video Assisted Thoracoscopic Biopsy is becoming the method of choice

105. ILD : Treatment & Outcome Long-term oxygen Steroids (oral and/or IV) Hydroxychloroquine Chemotherapy (Azathioprine, Methotrexate; cyclophosphamide; GM-GSF) OUTCOME (after ~3 years) Improvement : 74% �No change� : 17% Worsening/Death : ~ 9% ** Outcome tends to be better in the young patients

106. Questions?