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
 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
 AR
 CF gene
• CFTR – epithelial chloride
channel
• Abnormally viscid and
poorly hydrated secretions
 Most common
• Delta-F508
mutation
 Median
age of
survival
• 35.1y
 Exocrinopathy
• Inspissation of
abnormally thick
secretions
 Lungs
 Pancreas
 Lungs
• Impaired airway clearance
• Retention of bacteria
 Chronic infection
 Chronic inflammation
• Gradual decline in function
• Accounts for majority of
deaths
 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
 Meconium
ileus
• 5-10%
• Intestinal obstruction
of the newborn
 Distention
 Bilious vomiting
 Failure to pass
meconium
• Xray
 Dilated loops
 Ground glass or soap
bubble
 Meconium
Ileus
• Barium or water-soluble
contrast enema
 Small distal colon
• Prenatal rupture
 Abdominal calcifications
 Poor
weight gain
 Loose, foul-smelling bulky stools
 Voracious appetite
 Rectal prolapse
• 5%
 Chronic
productive
cough
 Chronic wheezing
 Digital clubbing
 Recurrent PNA
 Recurrent sinus
disease
 Nasal polyps
• 20%
 Persistent
symptoms
• Loose, productive cough
 May have blood-tinged sputum
 May signify acute infection
• Tachypnea
• Dyspnea
• Diffuse crackles
• Digital clubbing
• Barrel chest
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. Cor pulmonale
Hypochloremic
metabolic alkalosis
 Hemoptysis
 Pneumothorax
 Pneumomediastinum
 Hypertrophic
pulmonary
osteoarthopathy
 Distal intestinal
obstructive syndrome
 Biliary cirrhosis
 Pancreatitis
 Cor pulmonale
 Respiratory failure

 NBS
• Elevation of serum trypsinogen
 Sweat Test
• Gold standard
• >60 mEq/L
• 40-60 mEq/L
 Repeat
 Genetic Testing
 Acute
• Aminoglycoside and a PCN derivative that
attacks pseudomonas
• At CHNOLA
 Ceftaz
 Timentin + Tobramycin
 Timentin + Gentamicin
• Consider aerosolized Abx
 Chronic
• Enzymes
• ADEK
• Treatments
 Bronchodilators
 Pulmozyme
• Aggressive vibratory CPT
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
 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
 Cause
• Final common pathway
 Long-QT
 IEM
 Smothering
• Apnea hypothesis discarded
 Home apnea monitor is of no value in preventing SIDS
• True cause unknown
 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
 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
 Causes
• GER
 Single most common cause
• Sepsis/Meningitis
• IEM
• Seizure
• Pertussis
• RSV
• CHD
• Poisoning
• Child abuse
 Work Up
• ECG
• Lytes
• Glucose
• Ammonia
• Blood culture
• CBC
• Blood gas
• Tox
• Head CT
• Sleep study
• pH probe
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

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
NORMAL UPPER AIRWAY
ANATOMY





Obesity
GER
Sickle cell anemia
Laxity of the supraglottic
structures
Marked adenoidal or
tonsillar enlargement
ABNORMAL UPPER AIRWAY
ANATOMY









Crouzon syndrome
Apert syndrome
Down syndrome
Treacher Collins syndrome
Pierre Robin sequence
Arnold-Chiari
malformation
Prader-Willi
Mobius syndrome
Dwarfism
 Symptoms
• FTT
• Hyperactivity
 Diagnosis
• Sleep study
 Further Work
Up
• Pulmonary HTN
 Cardiac Echo
 ECG
 Management
• Apnea monitor
 Will not help since chest wall moves
• Correct underlying disorder
• CPAP
 Risk
Factors
• Seizure disorders
• CNS pathology
 Arnold-Chiari
 IVH
• Prematurity
• Congenital Hypoventilation Syndrome
 Ondine’s curse
 Work
Up
• Responses to hypercapnia or hypoxia
• CXR
• EEG
• Head CT
• pH probe
• Bronchoscopy
 Causes
• Incoordination of
swallowing
• GER
• More common in patients
with neurologic
impairment
 Complications
• Mixed restrictive-
obstructive pulmonary
disease
• Difficult to control asthma
 Suspect
• Poorly controlled asthma despite aggressive
management
 Risks
• Delayed gastric emptying
• GER
• Achalasia
 Diagnosis
• Modified barium
swallow
 Thin vs paste vs solid
 Phases of the
swallowing cycle
• Salivagram
 Tube fed individuals
 Diagnosis
• Gastric emptying scan
 Reflux (insensitive)
 Delayed gastric emptying
• Bronchoscopy with BAL
 Lipid-laden macrophages
 Inspection
≥
6 years
 Account for
• Variability in
•
•
•
•
•
performance
Age
Height
Weight
Sex
Race
 Use
• Establishing severity
• Guiding choice of
therapy
• Measuring response to
therapy
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??
A.
B.
C.
D.
Pulmonary for flexible bronchoscopy
Surgery for open removal
Surgery for rigid bronchoscopy
No one, you should do a blind finger
sweep

Indicated
• Stridor
• Unexplained or chronic cough or
wheeze
• Suspected airway malformations or
compression
• Atelectasis
• PNA
 Isolating organisms

Contraindicated
• Foreign body

Better visualization of distal
airways and upper lobes
NOCTURNAL
POLYSOMNOGRAPHY








Sleep stage
Movement of chest
Abdomen
Electromyogram of
diaphragm
Arterial saturation
Heart rate
End-tidal CO2
Eye movements
PNEUMOGRAM





Chest wall movement
Air flow by nasal thermistor
Heart rate
Arterial saturation
Central apnea and
bradycardia
 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