For cystic fibrosis to occur, a child’s parents must both be carriers of a defective gene on chromosome 7. If both parents are carriers, a child then has a 50% chance of also becoming a carrier, a 25% chance of contracting cystic fibrosis and a 25% chance of not being a carrier and not contracting cystic fibrosis.
This gene on chromosome 7 contains information for a protein called the cystic fibrosis transmembrane conductance regulator (CFTR). The protein CFTR controls the movement of salt and water in and out of the cell. When the gene is defective, like in CF, the CFTR doesn’t work properly or may be completely missing. This causes sweat to be up to five times saltier than normal. It also causes thick, sticky mucus to be produced on the outside of the cell (Genetic Science Learning Center, 2009).
The two organs that are mainly affected by this mucus are the lungs and the pancreas. The mucus builds up and obstructs the airways in the lungs. This build up of mucus can lead to bacterial growth, increasing risk of infections and the probability of lung damage. The pancreas produces enzymes that assist with digestion but the build up of mucus can also block the ducts in the pancreas, stopping the enzymes from reaching the intestines. Without these enzymes the intestines are unable to digest food properly, leading to a loss of vitamins and nutrients.
Wheezy chest in pediatrics
((Wheezy chest in pediatric age group))
Daniel Rawand Pols
Sajad Abdulridha Ali
Ghazwan Ardalab Slewa
Dr. Siamand Yahya
What is wheezing?
High pitched, continuous, musical
(whistling) sound, occurs when air flows
through a narrowed airway.
-Can originate from airway of any size
-Heard mostly on expiration
-Manifestation of lower respiratory tract
Causes of Wheezing in Childhood
CHRONIC OR RECURRENT
Reactive airway disease…..
Reactive airway disease : Asthma
Bronchial edema :
Bronchial hypersecretion :
• Cholinergic drugs
Aspiration : Foreign body
Aspiration of gastric contents
Airway compression by mass or blood vessel:
• Vascular ring/sling
• Bronchial or pulmonary cysts
Dynamic airway collapse:
Aspiration : Foreign body
Bronchial hypersecretion : Bronchitis,
Bonchiectasis, Cystic fibrosis, Primary ciliary
Intrinsic airway lesions: Endobronchial tumors
Approach to a wheezing child
oPatient age at onset of wheeze
oCourse: acute vs gradual
oPattern of wheezing?
oIs Wheezing associated with multiple systemic
Cystic fibrosis and Immunodeficiency diseases
oWheeze associated with feeding?
oWheeze associated with cough?
oChange in position? Worsening or improvement
oFamily hx of asthma?
•Vital signs including SpO2 %
–Chest wall deformity (increased AP diameter)
– allergic shiners/nasal polyps
•Palpation: chest wall asymmetry with expansion, tracheal
•Percussion: difference in vocal resonance
•Location of wheeze
•Character of wheeze
•Other breath sounds associated with wheeze
•Cardiac: presence of murmur
•CXR: AP and lateral views
–Children with new onset wheezing of undetermined etiology
–Chronic persistent wheezing not responding to treatment
–Suspected FB aspiration
Generalized: suggests diffuse air trapping
Asthma/ Cystic fibrosis/ Primary ciliary dyskinesia
Structural abnormalities/ FB aspiration
Other findings: atelectasis, bronchiectasis, mediastinal masses, enlarged
LN’s, cardiomegaly, enlarged pulmonary vessels or pulmonary edema.
•Chest CT scan:
–Mediastinal masses or LN’s
Pulmonary Function Tests (PFT’s)
Airway obstruction assessment
•Response to bronchodilator
•Sweat Chloride Test: Cystic fibrosis screening in children with
chronic lung problems, failure to thrive and diarrhea
•Immunoglobulin levels: Screen for immunodeficiency.
•Rapid antigen testing, viral cultures, sputum gram stain and
Etiology & Epidemiology
Bronchiolitis common in
•Not being breast fed.
- Mild URTI, diminished appetite, fever(38.5-39)
- Respiratory distress with paroxysmal wheezy cough,
- Infant is tachypnic which interfere with feeding
- No other systemic complain.
- Apnea(in 20% of hospitalized infants)
Infant at risk for apnea:
*very young infant(1-4 months)
* Chronic lung disease.
Sign of respiratory distress (nasal flaring, retraction)+
Fine crackle or overt ronchi+ prolongation of expiratory
Barely audible breath sound suggest a very sever disease
with nearly complete bronchiolar obstruction.
Hyperinflation of the lung may permit palpation of liver
•Bilateral interstitial abnormalities with peribronchial
•Up to 20% having lobar, segmental, or sub segmental
WBC & differential count are usually normal.
•Polymerase chain reaction
Blood gas analysis: hypoxemia, hypercarbia
Supportive : mainstay of treatment.
- Respiratory distress( hospitalization, positioning, cool&humidified
-Feeding :risk of aspiration( NG feeding) and parenteral fluids.
Corticosteroid : (oral, inhaler, parentral).
Intubation &mechanical ventilation.
Onset of presentation
Onset ≤3 years of age then resolving
Initial risk factor is primarily diminished lung size
Normal lung function by 6 Years of age
Not associated with increased risk of developing clinical asthma
Onset ≤3 years then persisting
Initial risk factors include passive smoke exposure, maternal asthma
history and elevated IgE level in the first year of life
Irreversible reduction in lung function at 6 years of age
An increase risk of developing clinical asthma
Late onset wheezer
Onset of wheeze between 3 to 6 years
EARLY CHILDHOOD RISK FACTORS FOR PERSISTENT ASTHMA
1) Parental asthma
3) Severe lower respiratory tract infection:
4) wheezing apart from cold
5) Male gender
6) Low birth weight
7) Environmental tobacco smoke exposure
-Intermittent dry coughing
-Older children report associated
shortness of breath and
-Asthma should be suspected in any child
with wheezing on more than one occasion.
-Other key features:
•worse at night and in the early morning
•Personal or family history of an atopic disease
•Positive response to asthma therapy.
Once suspected, the pattern or phenotype should be
further explored by asking:
•How much school has been missed due to
-Examination of the chest is usually normal
-In long-standing asthma
generalized expiratory wheeze
and prolonged expiratory phase.
- Evidence of eczema
- the nasal mucosa for allergic
CBC :Eosinophilia in a range of 15-20%
Eosinophilia in bronchial mucosa strongly suggest Asthma
Arterial blood gas analysis
Pulmonary function test : Applicable for children > 6
Classification of chronic Asthma
> 1 week
A stepwise approach to the treatment of
Step 1 ( mild intermittent asthma)
-No daily medication needed
-Sever exacerbation may need systemic steroids
-Step 2 (mild persistent)
-Low dose inhaled corticosteroids daily
Step 3 (moderate persistent)
-low to medium dose inhaled corticosteroids + long acting
inhaled B2 agonist
Step 4 ( sever persistent)
- High dose inhaled corticosteroids + long acting inhaled B2
agonist + oral corticosteroids (if needed)
Classification of severity of acute asthma exacerbations
Rest, stop feeding
Can lie down
May be agitated
Use of accessory
Loud, through out
Loud, inspiration &
Absence of wheeze
oSemi sitting position
oO2 to keep saturation > 92%.
oFluid if dehydrated.
oBeta-2 agonist: Salbutamol each 20 min by mask
until improved later on mask hourly if required.
If sever give steroids directly since
the onset of action is slow (4 hrs)
Criteria for admission to hospital
1)Persisting breathlessness, tachypnoea
3)Still have a marked reduction in their predicted (or
usual) peak flow rate
4) Oxygen saturation (<92% in air).
5) Family in able to cope with the condition
-It is extremely common in infancy.
- caused by
1) inappropriate relaxation of the lower oesophageal
sphincter as a result of functional immaturity.
2)A predominantly fluid diet,
3)A mainly horizontal posture
4)A short intra-abdominal length of oesophagus.
-resolves spontaneously by 12 months of age.
Severe reflux is more common in:
1)children with cerebral palsy or other
2) preterm infants
3) following surgery for oesophageal atresia
Complications of gastro-oesophageal reflux
• Failure to thrive from severe vomiting
• Oesophagitis – haematemesis, discomfort on
feeding or heartburn, iron deficiency anaemia
• Recurrent pulmonary aspiration – recurrent
pneumonia, cough or wheeze, apnoea in preterm infants
• Dystonic neck posturing (Sandifer syndrome)
• Apparent life-threatening events (ALTE)
May be indicated if
1)the history is atypical
2)complications are present
3)failure to respond to treatment.
• 24-hour oesophageal pH monitoring
• 24-hour impedance monitoring.
• Endoscopy with oesophageal biopsies
• Contrast studies of the upper
Uncomplicated gastro-oesophageal reflux can be managed by
2)adding inert thickening agents to feeds
(e.g. Nestargel, Carobel)
3) positioning in a 30° head-up prone position after feeds.
4) acid suppression with either : H2 receptor antagonists
or: proton pump inhibitors
5) If the child fails to respond to these
measures, other diagnoses such as cow’s milk protein
allergy should be considered
6) Surgical management: A Nissen fundoplication,
Cystic fibrosis (CF) is an inherited (AR) multisystem disorder
of children and adult, characterized chiefly by obstruction
and infection of airways and by mal digestion and its
CF is the major cause of severe chronic lung disease in
children and is responsible for most exocrine pancreatic
insufficiency in early life.
• Cystic Fibrosis is an inherited
• For a child to inherit CF, both
parents must be carriers of a
defective gene on chromosome 7.
- They then have a 50% chance of
becoming a carrier.
- A 25% chance of getting CF
- A 25% chance of not being a carrier
and not having CF
• A chromosome carries genetic information
• Chromosome 7 carries the cystic fibrosis transmembrane
conductance regulator (CFTR)
• CFTR controls salt and water movements in and out of
• When CFTR is defective, cystic fibrosis occurs because the
CFTR doesn’t work or is completely missing.
• When salt and water don’t move in and out of cells
properly, sweat becomes 5 times saltier and a thick, sticky
mucus is produced outside the cell.
It affects the…
• Mucus builds up and obstructs
• Pancreas produces enzymes that help
• Build up also makes a suitable
environment for bacterial growth
• Build up of mucus blocks ducts in
pancreas, stopping enzymes form reaching
Bacterial growth increases risk of
Repeated infections cause lung
Without enzymes, intestines can’t digest
Leads to loss of vitamins and nutrients
- A persistent cough that produces thick mucus
- Wheezing or lack of breath
- A lowered ability to do exercise
- Repetitive lung infections
-A persistent stuffy nose and inflamed nasal passages
- Foul smelling and greasy stools
- Unusually small amount of weight gain or growth
- Intestinal blocking, especially in newborns
- Infertility is common in both males and females, though more frequently in males
- Salty tasting skin and sweat.
- Screening: most newborn with CF can be identified by
determination of immunoreactive trypsinogene and limited
DNA testing on blood spots, coupled with confirmatory
sweat analysis. This screening test is about 95% sensitive.
-History: child having :
Cough and wheeze, SOB, sputum production, hemoptysis, stool
type( e.g fatty, oily, pale) and frequency , weight loss or poor
-Most children with CF present with:
Failure to thrive,
Recurrent chest infection.
Full assessment of:
*Liver and GIT system.
*Growth and development.
Sweat test: most definite test. By chloridometer is
recommended for analysis of chloride in these samples
+ve when CL is equal or more than 60 meq/L which is dx for
CF in conjunction with one of the followings:
•Typical chronic obstructive pulmonary dis.
•Exocrine pancreatic insuffisiency
•Positive family hx.
Pancreatic function test:
Pulmonary function test:
Treatments for CF
– Medications are used to treat lung disease
– Many are inhaled using a nebulizer
– Medications used are:
• Mucolytics, which loosen lung mucus
• Bronchodilators, which expand the airways
• Steroids, which decrease inflammation
• Antibiotics, fight infections
• Chest physical therapy
– Considered standard therapy
– Used to clear mucus from the lungs
– Person is clapped on the back
Treatments for CF (continued)
– Good nutrition
– High-calorie diet
• Pancreatic enzymes
– Pancreatic enzyme supplements, taken with everything consumed, help
– Transplants are used for end-stage disease.
– The transplants used are:
• Double-lung transplant
• Gene therapy is an experimental technique that uses genes to treat
• Gene therapy can replace a mutated gene or inactivating a mutated
• It is promising but risky. It needs more research to see if it is safe.
• Gene therapy has been used for cystic fibrosis, in which the healthy
CFTR gene is inserted into the lung cells
Foreign bodies of the airways
Epidemiology and etiolagy:
•Most patient are younger than 4 years.
•73% are older infants and toddlers
•1/3 of aspirated objects are nuts
•Raw carrot, apple, dried beans, pop corn& sun flower or
water melon seeds
•Mainly in right side.
- Sudden onset of cough, chocking & wheezing.
Stages of symptoms:
•Initial events; there is violent paroxysms of coughing,
chocking, gagging& possibly airway obstruction.
•Asymptomatic interval; foreign body become lodged.
•Obstruction, erosion or infection develops.
•Atelectasis, recurrent or persistent pneumania.
•Persistent wheezing unresponsive to bronchodilator&
diminished local breath sounds
Postero anterior & lateral chest radiogragh(expiratory
obstructive emphysema (air trapping) with
shifting of mediastinum toward the opposite site.
Lateral decubitus chest film or fluoroscopy.
FB occludes middle lobe
Atelectasis of Rt middle
Hyperinflation of upper and
Conscious : Heimlich maneuver
FB removal Back blow or chest thrusts (PALS)
Unconscious: 100% oxygen through the mask, rigid
bronchoscopy and object removal
-Nelson Essentials of Pediatrics, 6th Edition
-nelson textbook of pediatrics 19th edition
-illustrated textbook of paediatrics 4th