Presentation on theme: "“I’m still breathing” Pediatric Pulmonary Board Review"— Presentation transcript:
1“I’m still breathing” Pediatric Pulmonary Board Review April Wazeka, M.D.Respiratory Center for ChildrenGoryeb Children’s HospitalAssistant Professor of PediatricsUMDNJ-New Jersey Medical SchoolDiplomate in Sleep Medicine
3A 5 year old male presents to your office with a chronic cough Case Presentation #1A 5 year old male presents to your office with a chronic coughCough is productive, increased at night, recurrentWorse with exercise and with upper respiratory infectionsGrowth has been normalChest xray findings are normal except for mild hyperinflation
4Differential Diagnosis: Which is the MOST likely diagnosis? SinusitisAsthmaGastroesophageal reflux diseaseTuberculosisCystic FibrosisPsychogenic cough6
5Asthma: Overview Chronic inflammatory disease of the airway Affects 20 million people in the US (9 million children)More than 70% also have allergiesPrevalence 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.470,000 hospitalizations per year
6PathogenesisAirway inflammation also contributes to airflow limitation, which includes:BronchoconstrictionEdemaChronic mucus pluggingAirway wall remodelingAll this leads to bronchial obstruction
9All of the following are asthma Risk Factors EXCEPT: Inner city minorityLow birth weightCigarette smokingFamily history of asthmaHistory of atopy (allergies, eczema)Living on a farm6
10Asthma is primarily a clinical diagnosis HistoryAsthma is primarily a clinical diagnosisHistoryCoughWheezingShortness of breath, particularly with exerciseChest pain or tightness“Difficulty catching my breath”Vomiting, particularly mucus
11Physical ExamWheezingCrackles in the lungMuscle retractionsOften can be normal
12Pulmonary Function Testing DeterminesDegree of airway obstructionOther lung disorders
17Treatment—Inhaled Steroids Inhaled corticosteroids are standard of care for all categories except for mild intermittent asthmaLong term prevention of symptoms; suppression, control and reversal of inflammation.Block late reaction to allergenReduce airway hyperresponsivenessInhibit inflammatory cell migration and activationIncrease B2 receptor affinity
20All of the following are side effects of inhaled steroids EXCEPT: CoughHoarse voicePalpitationsOral thrush.Adrenal suppressionGrowth suppressionOsteoporosis6
21Asthma and Exercise Exercise can trigger asthma Symptoms are worse with cold, dry airHowever, exercise helps lungs function better and prevents obesityAs long as asthma is well-controlled and a short-acting bronchodilator (rescue medicine) is used beforehand, children with asthma should be able to do sportsPulmonary function testing best first test; then exercise testing.
23Case # 2A 4-month-old infant boy is brought to the Emergency Room because of lethargy.Physical ExaminationAfebrile HR 160 bpm RR 50 breaths/min SaO2: 98% on RAWeight: 3.2 kgGENERAL : Very thin, appearing to be malnourished; Lethargic but arousableHEENT : dry mucous membranesCHEST : equal breath soundsABDOMEN : distended; no organomegalySKIN : decreased turgor and elasticityNEUROLOGIC : poor muscle tone; poor suck
24Case # 2 (Continued) PMHx: Born at term; No problems at birth. Hospitalized at 1 month of age for pneumonia;Chronic cough; Frequent diarrheaImmunizations: UTDSocial Hx: Lives with parentsFHx: Cousin with recurrent respiratory infections.Nutrition & Growth: breast fed; used to have good appetite but it got progressively worse; poor weight gain in the beginning; actual weight loss lately
25After IVF, these are the labs: SERUM CHEMISTRIESNa121K4.6Cl94CO216BUN4Cr0.2Tot Protein3.1Albumin1.7
26What is your differential diagnosis? What tests would you do next?
27SWEAT TEST Sweat Chloride: 78.12 mmol/L Normal under 6mos<30 mmol/L Normal over 6mos<40mmol/LBorderline mmol/LAbnormal >60 mmol/L*In infants anything >30 should be repeated and worked up
28OVERVIEW OF CYSTIC FIBROSIS Most common fatal inherited disorder in CaucasiansGenetics: 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 approximately 1,900 known mutations; however 75% of the patients are homozygous for the Δ508 mutationGenetic testing for the 30 most frequent mutations is sensitive for the genotype of up to 90% of AmericansIncidence: varies significantly among racial groupsCaucasians: ~1/ live birthsAfrican-Americans : ~1/17,000 live births (US)Asians : ~1/90,000 live births (Hawaii)
29Curatio PowerPoint Template 4/15/2017 6:25 AMCystic Fibrosis GeneChromosome 7Sequence of nucleotides in CFTR geneAmino acid sequence of CFTR proteinATCIsoleucine 506ATCIsoleucine 507Deleted in many patients with cystic fibrosisTPhenylalanine 508Curatio Note: Figure from top Right of page 27 in Welsh M and Smith A. Scientific American. 1995;September:24.GTCFTR GENEGlycine 509GTValine 510Welsh M and Smith A. Scientific American. 1995;September:24.Welsh M, Smith A. Sci Am. 1995;273:24.
30Pathophysiology of CFThe CFTR controls the Cl conductance in the apical 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.
31Curatio PowerPoint Template 4/15/2017 6:25 AMOrgans Affected By CFThe genetic defect underlying CF disrupts the functioning of several organs by causing ducts or other tubes to become clogged, usually by thick, sticky mucus or other secretionsSinusesAirwaysLiverPancreasSmall intestineReproductive tractWelsh M and Smith A. Scientific American. 1995;September:24.Figure top left of page page26SkinWelsh M, Smith A. Sci Am. 1995;273:24.
32Potential Pulmonary Treatments in Cystic Fibrosis Airway clearanceAntibioticsCorticosteroidsIbuprofen, other anti-inflammatory agentsDornase AlfaHypertonic saline (HTS)Genetic or Protein Correctors
33CF: Newborn Screening Assessment of Immunoreactive trypsinogen (IRT) Confirmation of positive IRT by CF gene mutation analysisConfirmation of results with a sweat testNow present in all 50 states in the US
34Presenting Features of CF Persistent respiratory symptoms50%Failure to thrive43%Abnormal stools35%Meconium Ileus, intestinal obstruction19%Family history17%Hyponatremia, acid-base abnormality5%Rectal prolapse3%Nasal polyps; chronic sinusitis2%Hepatobiliary disease1%
35Pulmonary Function Over Time CFF Patient Registry, 2011 Median FEV1 (% Predicted)The graph from the CFF Patient Registry of 2011 compares pulmonary function, as measured by median percent predicted FEV1. Compared to rates from 1991, pulmonary function has significantly improved in patients with CF, even as they age. This figure shows the median FEV1 by age at three different time points, 10 years apart: 1991, 2001, and At each age, lung function is better in 2001 and still better in This improvement appears to be due to better lung function during the first decade of life. However, lung function decline still occurs in adolescence and the rate of decline is comparable during the three time periods.Years
36Criteria for Testing 1.Nasal polyps 2. Recurrent pneumonia All of the following are criteria for testing EXCEPT:1.Nasal polyps2. Recurrent pneumonia3. Sibling with CF4. Failure to thrive5. Parent a carrier
37All the following support a Dx of CF except: Typical clinical features (e.g. cough, FTT)A positive newborn screening testing2 sweat chloride concentrations of 20 and 24 mEq/LIdentification of 2 CF mutationsAbnormal nasal potential difference
38All of the following are manifestations of CF: Cough (productive)Bulky, greasy stools with droplets of fatDiabetesMeconium ileusConstipationAzoospermiaBiliary cirrhosisPancreatitis
40Signs and Symptoms of a Pulmonary Exacerbation in CF Increased frequency and duration of cough or increased pulmonary symptomsIncreased sputum production and change in appearanceAppearance of rhonchi and cracklesDecline in indices of pulmonary functionWeight lossNew infiltrate on Chest X-ray
42Case Study #3BG “A” is an ex-24 week preemie with chronic lung disease of the newborn, a history of a patent ductus arteriosus (PDA), and apnea of prematurity, who is now preparing to be discharged home from the NICUShe 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 bradycardiaBaseline oxygen saturations are normal
43Apnea of InfancyUnexplained episode of cessation of breathing for 20 seconds or longer, or a shorter respiratory pause associated with bradycardia, cyanosis, pallor, and/or marked hypotoniaCalled apnea of prematurity when present 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.
44Apparent 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 changeUnresponsivenessChange in muscle tone, choking, or gagging
45SIDSSudden 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
46Risk Factors for SIDS Sleeping in prone position Co-sleeping Smoking Low socioeconomic statusOverheatingYoung 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
47Prematurity Preterm infants at greater risk of extreme apnea episodes Risk decreases with time, ceasing at approximately 43 weeks postmenstrual ageIn infants with recurrent, significant apnea, monitoring may be considered
48AAP Recommendations 2003Home monitors should not be prescribed to prevent SIDSHome 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
49AAP Recommendations 2003Parents should be advised that home monitoring has not been proven to prevent SIDSPediatricians 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 smokeAmerican Academy of Pediatrics Policy Statement, Apnea, Sudden Infant Death Syndrome, and Home Monitoring. Pediatrics. April 2003; 111 (4):
50Obstructive 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 patternsAmerican Thoracic Society. Standards and indications for cardiopulmonary sleep studies in children. Am J Resp Crit Care Med. 1996; 153:
51Airway Obstruction during Sleep Combination of structural and neuromuscular factorsDynamic processSite of airway collapse in children most often at level of the adenoid
52All of the following are risk factors for obstructive sleep apnea EXCEPT: Adenotonsillar hypertrophyObesityCraniofacial anomaliesGastroesophageal reflux diseaseNeuromuscular disorders6
53Prevalence 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:
58Case Presentation #4Six 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.
59Case Presentation #4 PMHx: No prior pneumonia or wheezing FHx: +Asthma (brother)ALL: NKDAIMM: Missing part of primary series; no recent ppd done.SHx: No recent travel out of the country.Laboratory: WBC 35,000
61Definition: Pneumonia An inflammation of the lung parenchyma
62Which is the MOST likely causative organism in this patient? Group B strepStreptococcus pneumoniaeTuberculosisMycoplasmaLegionella
63BackgroundMore than 2 million children die annually of pneumonia worldwideMortality rare in the developed worldIn U.S., episodes of community-acquired pneumonia /1,000 children per yearRespiratory viruses most common cause of pneumonia during the first years of lifeRisk factors: daycare, cigarette smoking
64Pathophysiology of Bacterial Pneumonia Most common event disturbing lung defense mechanisms is a viral infectionAlters properties of normal lung secretionsInhibits phagocytosisModifies normal bacterial floraOften precedes development of a bacterial pneumonia by a few days
66Organisms Neonates E.coli Group B strep H. influenzae S. pneumoniae ListeriaAnaerobesInfantsS. pnemoniaeS. aureusH. Influenzae
67Organisms Preschool age S. pneumoniae Moraxella H. Influenzae Neisseria meningitidisSchool age and adolescentS. pneumoniaeS. aureusMycoplasmaC.pneumoniae (TWAR)
68Clinical Sxs Shaking chills High Fever Cough Chest pain Mild URI sxs Decreased appetiteAbrupt onset high feverRusty-colored sputumRespiratory distressCyanosis*Pattern more variable in infants and young children and PE often unrevealing
69Physical Exam Laboratory Findings Retractions Dullness to percussion Tubular breath soundsRalesDiminished tactile and vocal fremitusDecreased breath soundsLaboratory FindingsLeukocytosis with left shiftWBC <5,000/mm3 poor prognosisABG: hypoxemiaBacteremia on blood culturePositive sputum culture
70Complications Empyema—pus in the pleural space Pleural effusion PericarditisMeningitisOsteomyelitisMetastatic abscesses*Antibiotic therapy has reduced spread of infection Pre-antibiotic era mortality rate high in infants
72TherapyDecision to hospitalize based on severity of the illness and home environmentCan treat simple pneumonia as an outpatientPatients with empyema or pleural effusion should be hospitalizedOxygenThoracentesisChest tube drainageDecortication
73Empiric Therapy Neonates Infants Parenteral antibiotics Ampicillin CefotaximeorGentamicinTreat as rule out sepsisInfantsShould use parenteral initiallyAmpicillin/sulbactamOr CefuroximeOr CeftriaxoneOnce stabilized, can give Augmentin for total of 10 day course
74Empiric Therapy: School Age and Adolescent Ampicillin or IV Penicillin GCeftriaxone can be added if concerns about resistance or lack of improvement in clinical statusVancomycinOral Augmentin if stableMacrolide if suspicion of atypical pneumonia
75Follow-UpMost children have normal xrays by 2-3 months after acute infection*20% with residual changes 3-4 weeks after infectionChildren 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
77Case #5 Emergency Room because of persistent cough and A 2-month-old infant boy is brought to theEmergency Room because of persistent cough anddifficulty in breathing.On examination the infant has audible stridor, aharsh, “honking” cough, and suprasternal andsubcostal chest wall retractionsHe has URI symptoms and a low-grade fever andis nontoxic appearing
78OverviewStridor is a harsh, high-pitched predominantly inspiratory sound produced by partial obstruction of the airway, resulting in turbulent airflow.It is associated with variable degrees of difficulty in breathingUsually associated with suprasternal retractions, and when severe with intercostal, subcostal and substernal as well.
79Sites & Sounds of Airway Obstruction SnoringInspiratoryStridorVoice qualityCough qualityExpiratoryStridor
80All of the following are potential causes of stridor in a 2-month-old infant EXCEPT: InfectiousTraumaLaryngomalaciaAirway hemangioma(s)FB aspirationVascular ring
81Case #5: Neonatal History Cyanosis and respiratory distress developed during the first 24 hours of lifeCardiac echocardiogram revealed congenital cyanotic heart disease necessitating a Blalock-Taussig shuntHe was intubated and mechanically ventilated until 10 days of life.
82Which is the least likely cause for his stridor: Subglottic stenosisVocal Cord ParalysisPulmonary artery slingIdiopathic laryngomalaciaVascular ring
83What would be the least useful test in determining the cause of the stridor ? Lateral neck xraysCT scan of the neck and chestBarium swallowBedside flexible laryngoscopyFlexible fiberoptic bronchoscopy
84Causes of Stridor in Infants & Children According to Site of Obstruction & Age Nasopharynx- Choanal atresia - Thyroglossal cyst - Macroglossia - Hypertrophic tonsils- Retropharyngeal or peritonsillar abscess
91Subglottic Hemangioma Female:male is 2:1Usually a submucosal lesionNo color change or bluish discolorationFrequently associated with hemangiomas elsewhere on the bodyStridor biphasic, increased with crying or valsalva
93Acute Laryngotracheobronchitis (Croup) Etiology Parainfluenza virus 1 (also 2 & 3)- Respiratory Syncytial Virus- Rhinovirus- Influenza virus A (and less often B)- Adenovirus
94Croup: Epidemiology Season: fall and early winter Gender: more common in boysOnset of symptoms: mostly at nightDuration: from hours to several days
95Recurrent (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
96Epiglottitis Life-threatening infection Incidence is cases per million people in the United States.Since 1985, with the widespread vaccination against Haemophilus influenzae type b (or Hib), which was the most common organism related to epiglottitis, the overall incidence of the disease has dropped dramatically.Epiglottitis typically peaks in children aged 2-4 years.Various organisms that can cause epiglottitis include Streptococcus pneumoniae, Haemophilus parainfluenzae, varicella-zoster, herpes simplex virus type 1, and Staphylococcus aureus.
97Epiglottitis: Symptoms The most common symptoms include:Sore throatMuffling or changes in the voice,Difficulty speakingHigh feverDysphagiaDroolingRespiratory distress
100CASE #615-month-old male infant with history of frequent respiratory infections, persistent cough and tachypnea of 6 months duration. Progressive dyspnea with activity. Occasional wheezing and fever.PMH: unremarkable until onset of above symptoms; Normal growth until 1year of age; no weight gain for past 3-4 monthsFHx: Significant for asthma in his 5-year-old sister.
101Physical Examination VS: T 37.3oC; HR 140 bpm RR 42 breaths/min SaO2: 91% on RA Wt: 10 kg (25th)General : well nourished but thin child;tachypneic but not in distressChest : symmetric with mild intercostal retractions; equal but somewhat decreased breath sounds bilaterally; scattered fine cracklesExtremities: mild (1+) clubbingChest X-ray: increased interstitial markings
103Children’s Interstitial Lung Disease (chILD) Heterogenous group of disorders of rare and diffuse lung diseases that produce considerable morbidity and mortality
104Epidemiology of Pediatric ILD Prevalence: estimates range from 0.36/100,000 up to ~90/100,000Affects slightly more males (1.4:1)Affects mostly Caucasians (88%)Affected siblings in about 10% of casesInfants and young children more affected
110Pulmonary Alveolar Proteinosis Pulmonary alveolar proteinosis (PAP) is a rare lung disorder of unknown etiology characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff (PAS) method and is derived from surfactant phospholipids and protein components .May be related to granulocyte-macrophage colony-stimulating factor (GM-CSF) antibodies or GM-CSF deficiency.Due to a defect in the homeostatic mechanism of either the production of surfactant or the clearance by alveolar macrophages and the mucociliary elevator.Rx: Whole lung lavage, Inhaled GM-CSF (if caused by antibodies to GM-CSF)
111Surfactant Metabolism Dysfunction Disorders Due to surfactant mutation disordersSurfactant proteins B and CABCA3Mutations in thyroid transcription factor 1 (TTF1)Lysinuric protein intolerance
112Any child with cough and/or tachypnea lasting more than >3 months should be evaluated for possible ILDMost laboratory tests are rarely diagnostic but they are useful to exclude other diagnoses
113Which of the following is the MOST diagnostic test in this case ? Chest X-rayChest CTQuantitative ImmunoglobulinsPanel for collagen vascular diseasesBronchoalveolar lavageSweat testLung Biopsy
114ILD : Imaging Studies Plain chest X-rays to start High resolution CT (HRCT) with thin sections (1 mm) is the best modality
115ILD : Diagnostic Studies Pulmonary Function Tests- Restrictive pattern with decreased lungvolumes , decreased lung compliance andmarkedly decreased diffusing capacityBronchoalveolar LavageAble to confirm only a few disorders 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
116ILD : Treatment & Outcome Depends on classificationSupportive careLong-term oxygenSteroids (oral and/or IV)HydroxychloroquineChemotherapy (Azathioprine, Methotrexate; cyclophosphamide; GM-GSFLung transplantationOUTCOME:Mortality approximately 30%Increased mortality if pulmonary HTN present