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PEAD 4 - ARDS and Respiratory
PEAD 4 - ARDS and Respiratory
Wheezing in children
Definition
o continuous musical sound heard during chest auscultation that lasts longer than 250 msec
o produced by the oscillation of opposing walls of an airway narrowed almost to the point of closure
o Wheezing requires sufficient airflow to generate airway oscillation and produce sound in addition to
narrowing or compression of the airway → absence in acute asthmatic is a bad sign
o Stridor refers to a monophonic wheeze that is loudest over the central airways
26% of 2-3 year olds
<2 yrs old →30%, typically present with classic coryzal symptom
may be either a benign, self-limited process or the presenting symptom of a significant respiratory disease
Most likely diagnosis is asthma
o regardless of the age of onset, evidence of atopic disease, precipitating causes, or frequency of wheezing
DDx
o asthma: recurrent wheezing episodes
o pneumonia: fever, cough, malaise
o bronchiolitis: first episode of wheezing (see Bronchiolitis Section)
o CF: prolonged wheezing unresponsive to therapy
o foreign body aspiration: sudden onset wheezing and coughing
o gastroesophageal reflux with aspiration: feeding difficulties
o congestive heart failure: associated FTT
Clinical history
o patient's age at the onset of wheezing
o course of onset (acute versus gradual)
Acute onset of wheezing raises the possibility of foreign body aspiration, particularly if there is a
history of choking.
o distinguish between intermittent and persistent wheezing
o Cough
Wet/dry?
Wet → from excessive mucus production, mostly due to infection or inflammation
Dry → pure bronchoconstriction or structural causes for airway narrowing (eg, asthma, airway
malacia or compression, foreign body, vascular ring)
Clinical features that suggest a diagnosis other than asthma include the following:
Poor response to asthma medications
A history of neonatal or perinatal respiratory problems and wheezing since birth suggests a congenital
abnormality.
Wheezing associated with feeding or vomiting can result from gastroesophageal reflux or impaired
swallowing complicated by aspiration.
A history of choking, especially with associated coughing or shortness of breath, suggests foreign body
aspiration, even if it does not immediately precede onset of wheezing symptoms.
Wheezing with little cough suggests a purely mechanical cause of obstruction, such as small airways, airway
malacia, and vascular ring, since cough is a prominent component of asthma in children [18].
Symptoms that vary with changes in position may be caused by tracheomalacia, bronchomalacia, or vascular
rings.
Poor weight gain and recurrent ear or sinus infections suggest cystic fibrosis, immunodeficiency, or ciliary
dysfunction.
History of progressive dyspnea, tachypnea, exercise intolerance, and failure to thrive suggest interstitial lung
disease.
PHYSICAL EXAMINATION
measurement of weight and height, vital signs including oxygen saturation, and digital inspection for the
presence of cyanosis or clubbing.
Chest exam:
o Inspection for the presence of respiratory distress, tachypnea, retractions, or structural
abnormalities
o Palpation to detect supratracheal lymphadenopathy or tracheal deviation
o Auscultation allows identification of the characteristics and location of wheezing, as well as
variations in air entry among different lung regions.
A prolonged expiratory phase suggests airway narrowing. Wheezing caused by a large or
central airway obstruction (eg, vascular ring, subglottic stenosis, tracheomalacia) has a
constant acoustic character throughout the lung, but varies in loudness depending upon the
distance from the site of obstruction.
o Crackles can be present in conjunction with wheezing in asthma and in a variety of other conditions,
such as those leading to bronchiectasis (eg, cystic fibrosis, primary ciliary dyskinesia, immune
deficiency).
Early inspiratory crackles are often present in patients with asthma due to air flowing
through secretions or slightly closed airways during inspiration.
Late inspiratory crackles are usually associated with interstitial lung disease and early
congestive heart failure
cardiac findings, including murmurs and signs of heart failure
Examination of the skin for eczema (common in atopic patients) or other cutaneous lesions
. Nasal examination may reveal signs of allergic rhinitis, sinusitis, or nasal polyps (cystic fibrosis?)
Investigations
CXR
o AP and lateral films
o can also help differentiate between diffuse and focal disease
o The presence of generalized hyperinflation suggests diffuse air trapping and airway disease, seen in
asthma, cystic fibrosis, primary ciliary dyskinesia, and aspiration
Barium swallow
o may help in identifying vascular rings, swallowing dysfunction, aspiration syndromes including
gastroesophageal reflux, and some cases of tracheoesophageal fistula
o only when suspected
Pulmonary function tests
o With response to bronchodilators
Response to treatment with trial of inhaled bronchodilators
Testing for infection→ sputum stains and cultures
Sweat chloride test for cystic fibrosis
o presence of diarrhea, failure to thrive, and/or clubbing should raise the suspicion for cystic fibrosis
Endoscopy→ consider for suspected foreign body aspiration
CAUSES
Immediately life-threatening conditions
o Severe upper airway obstruction
Have no effective air movement, hence no audible speech, cry, or cough
Causes:
foreign body aspiration
angioedema from anaphylaxis
Epiglottitis
Noisy inspiration (stridor) is a hallmark → absence doesn’t preclude
Severe partial upper airway obstruction
foreign body aspiration
infection (most commonly croup)
injury (such as airway thermal or chemical burns)
o Tension pneumothorax
develops when increased intrathoracic volume from air that has leaked into the pleural
cavity causes a shift of mediastinal structures toward the opposite side, compressing the
contralateral lung and cardiac vessels
Rapidly fatal without immediate decompression.
Hallmarks
Severe respiratory distress
Ipsilateral hyperexpansion of the chest
Decreased or absent breath sounds and hyper-resonance to percussion on the side
of the collapsed lung
Shift of mediastinal structures, including the trachea, toward the side opposite of
the collapsed lung
usually due to penetrating or blunt trauma, including mechanical ventilation and
cardiopulmonary resuscitation but it can also occur on occasion as the result of a
spontaneous pneumothorax
Needle decompression can be a life-saving
thoracostomy tube can be placed in children with a tension pneumothorax
o Pulmonary embolism
uncommon condition in children and is often associated with the use of central venous lines
or access devices
Also if a hypercoagulable state (such as factor V Leiden mutation, protein S or protein C
deficiency), congenital heart disease, trauma, nephrotic syndrome, systemic lupus
erythematosus, and complications of some chemotherapeutic regimens
o Cardiac tamponade
occurs when blood, serous fluid, or air under tension (usually in neonates) fills the
pericardial sack → compromise of venous return and decreased stroke volume
present acutely with hypotension
Children may also have signs of respiratory distress or apnea
Beck's triad (hypotension, jugular venous distention, and muffled heart sounds), are present
in less than one-third of patients
Pulsus paradoxus is indication for pericardiocentesis
rare in children and usually accompanies trauma
o Other traumatic conditions
flail chest, pulmonary contusion, open pneumothorax, smoke inhalation, hemothorax,
hemorrhagic shock, and central nervous system trauma
Other conditions
Respiratory tract conditions
o Asthma
o Bronchospasm due to reactive airways can cause severe respiratory distress
o Infections
o Uvulitis
May present with fever, sore throat, difficulty swallowing, pain with swallowing, drooling,
and/or respiratory distress.
Respiratory distress is uncommon in infectious uvulitis unless there is associated epiglottitis.
The uvula is red and swollen and may be covered by purulent exudates
o Peritonsillar abscesses
typically cause local pain, sore throat, trismus, difficulty swallowing, and muffled ("hot
potato") voice
tonsillar and peritonsillar swelling and erythema with deviation of the uvula to the
unaffected side
most commonly caused by Group A streptococcus, but can be caused by other bacteria and
sometimes develops secondary to Epstein-Barr virus (ie, mononucleosis)
more common in older children and adolescents
o Retropharyngeal abscesses
tridor and typical signs of respiratory distress if the abscess impedes on the trachea
usually develops in infants and toddlers
also → drooling, dysphagia, torticollis, meningismus, and change in voice
o Croup (acute laryngotracheobronchitis)
Pathophysiology
inflammation of tissues in subglottic space +/– tracheobronchial tree
swelling of mucosal lining and associated with thick viscous, mucopurulent exudate
which compromises upper airway (subglottic space narrowest portion of upper
airway)
normal function of ciliated mucous membrane impaired
most common infectious cause of upper airway obstruction in children between 6 and 36
months of age, but can be seen from early infancy through school age (
etiology may be viral (most commonly parainfluenza 1 virus) or allergic (spasmodic croup)
Other common virus → parainfluenzae II, III, influenza A and B, RSV
onset of symptoms is usually gradual, beginning with nasal congestion, and coryza
→ progress over 12 to 48 hours to include fever, usually <39°C (higher in influenza),
hoarseness, barking cough (sea-lion), and biphasic stridor stridor
Barky cough most commonly begins during the night or with napping
Respiratory distress increases as upper airway obstruction becomes more severe
Rapid progression or signs of lower airway involvement suggests a more serious
illness (Croup appears less toxic than epiglottitis)
supraglottic area normal
"steeple-sign" on AP of neck
Symptoms generally although may be higher especially if due to influenza
Symptoms typically persist for 3-7 days with resolution of barky cough by day 4 in
most children.
Deviations from this expected course → consider differential diagnoses
o rule out foreign body and subglottic stenosis
o if recurrent croup, think subglottic stenosis
Management of croup
• Avoid any examination that may distress
the child.
• In severe obstruction, give an inhalation of
nebulised 1% adrenaline 1 mL per dose
diluted to 4 mL, or 5 mL of 1 : 1000 solution
to obtain temporary relief.
• Give corticosteroid i.m./i.v. (e.g.
dexamethasone 0.6 mg/kg).
• Obtain intensive care or anaesthetic help
with a view to endotracheal intubation. If
this is not available, intubate when the child
is going into respiratory failure.
• Children admitted to a general paediatric
ward should not be administered oxygen.
Decreased saturations are a marker of
obstruction requiring medical review and
often further adrenaline. Giving oxygen
masks this.
Bacterial tracheitis
invasive exudative bacterial infection of the soft tissues of the trachea usually caused by Staphylococcus aureus
o may be the result of viral infection or bacterial superinfection in a child with croup
clinical features
o of airway obstruction→ stridor, cough, and respiratory distress accompanied by fever
children < 3 years ↑ risk of severe disease because of narrow airway diameter
Bronchiolitis
Usually caused by RSV (respiratory syncytial virus)- 75%, but also Parainfluenza, Influenza, Adenovirus
Generalised lower respiratory tract infection, but RSV infection can also cause lobar pneumonia.
Typically affects children younger than 2 years of age.
o common, affects 15% of children in first 2 years of life
o peak incidence at 6 months, often in late fall and winter
o occurs in children prone to airway reactivity, i.e. increased incidence of asthma
Clinical
o several days of upper airway symptoms (ie. nasal congestion and copious nasal secretions) → lower
airway symptoms (wheezing, rales, rhonchi, and cough)
Cough, wheeze, tachypnoea, apnoeas, fever and poor feeding in an infant.
May be signs of respiratory distress including tracheal tug, recession, use of accessory muscles,
grunting (closing of the glottis to give self-PEAP)
Crackles and wheeze on auscultation
Severe bronchiolitis is associated with respiratory failure
Young infants (<6 weeks) are at risk of apnoeas.
o Peak severity of illness is usually between days 4 and 6 with resolution of symptoms between days 10
and 14
Management
o CXR and nasopharyngeal aspirates are not routine investigations for bronchiolitis.
CXR shows air trapping, peribronchial thickening, atelectasis, increased linear markings
nasopharyngeal swab direct detection of viral antigen (immunofluorescence)
o Infants <3 months and those with severe bronchiolitis are more likely to become hyponatraemic (due to
the syndrome of ‘inappropriate’ increased ADH secretion (SIADH)) and warrant close attention to fluid
balance
o The most effective preventions against RSV infection are proper handwashing techniques and reducing
exposure to potential environmental risk factors
Complications
o possible development of chronic
airway hyperreactivity (asthma)
o ↑ morbidity and mortality in
children with underlying medical
disorders, including chronic lung
disease of prematurity, CF,
congenital heart disease, and
immunodeficiency.
Prognosis
o for the majority of infants with
acute bronchiolitis is very good,
low mortality rate
Pneumonia
common cause of lower airway disease in infants and children
incidence is greatest in first year of life
bacterial cause has more acute onset, but viral cause is more common
Respiratory viruses are the most common cause of pneumonia in young infants in developed countries
o only mild to moderate constitutional disturbance → scattered inspiratory crackles on auscultation
Most likely bacterial that causes acute distress syndrome
o patients with viral and atypical pneumonias, such as Mycoplasma or Chlamydia, tend to have diffuse
peribronchial, interstitial processes
o Mycoplasma pneumoniae is the most common pathogen in children >5 years old and is an under-
recognised
Typically symptoms develop over several days before the cough, often with a systemic
illness.
Cough is prominent and crackles may be focal or widespread.
Children are usually unwell, may have headache and focal signs are present in the chest.
o Streptococcus pneumoniae
most common bacterial pathogen in all age groups, followed by non-typeable Haemophilus
influenzae and Staphylococcus aureus.
Group A β-haemolytic streptococcus is less common but may cause severe pneumonia.
Many older children can be managed at home, but most <24 months should be admitted to
hospital
Clinical features
o Tachypnoea, fever and cough.
o There may be signs of respiratory distress
o Focal signs in the chest may be difficult to detect in young infants.
o CXR changes do not distinguish viral from bacterial pneumonia, although lobar changes are more
likely to be caused by Streptococcus pneumoniae
Acute pharyngitis/tonsillitis
fever and sore throat
o Most due to viral (almost all in children <4 years of age).
Clinically important bacterial pathogen is group A β-haemolytic streptococcus (GABHS), Streptococcus pyogenes.
o GABHS is found in around 20–30% of older children presenting with an acute sore throat.
GABHS colonises the throat in some normal children (up to 20%).
A child with a sore throat may be colonised with GABHS and therefore have a positive throat
swab (or a positive antigen test), yet the cause of the episode may be a viral infection.
GABHS is more likely if the child is 4 years of age or older, has tenderness and enlargement of
the tonsillar cervical lymph nodes, inflammation of the tonsils and pharynx (pharyngotonsillitis),
unilateral signs or a generalised erythematous (scarlatiniform) rash.
The presence of tonsillar exudate is not helpful in distinguishing viral infection from GABHS.
less likely if the child has associated coryza, cough, generalised lymphadenopathy or
splenomegaly
Streptococcal serology (ASOT, antiDNase-B titre) can only be used to make a retrospective
diagnosis (rise in titre between baseline and 3 weeks later)
Penicillin reduces the duration of symptoms, possibly by up to a day or more
reduces the incidence of uncommon suppurative complications (e.g. quinsy) and acute
rheumatic fever
Practical management
o Children who probably do not need antibiotics are those aged <4 years and/or those with associated
cough or coryza, unless they are unwell enough to require hospitalisation
Send a throat swab for culture and give oral phenoxymethylpenicillin 250 mg (500 mg if >10
years) 12 hourly.
Erythromycin for penicillin allergy
If the throat swab does not grow a GABHS (the result is normally available 48–72 h later) the
antibiotics can be stopped → otherwise continue for 10 days
Treat all sore throats in Aboriginal Australians in remote/ rural settings
o Infectious mononucleosis is a relatively common cause of acute pharyngitis in older children
no response to penicillin
generalised lymphadenopathy, splenomegaly, mild jaundice and rashes
more prolonged course
Quinsy (peritonsillar abscess)
o Infection can extend beyond the tonsil as cellulitis (peritonsillar cellulitis) or as a peritonsillar abscess
(quinsy)
o features of severe tonsillitis + drooling + ‘hot potato’ voice + trismus
o drainage is necessary.
o Refer to an otolaryngologist
Recurrent acute pharyngitis/tonsillitis
o normal part of growing up for many children
o recurrent viral pharyngitis mainly
o True recurrent GABHS pharyngotonsillitis is much less common but often over-diagnosed.
Reduced by another antibiotic (eg. amoxicillin/clavulanic acid), Use of low-dose prophylactic
penicillin, Treatment of culture-positive family members or Tonsillectomy (with or without
adenoidectomy)
Otitis media
spectrum of conditions → presence of fluid in the middle ear
o Typical tympanic membrane appearance
Types:
o Acute suppurative otitis media (ASOM).
Middle ear effusion
Otoscopic features include loss of the normal tympanic membrane translucency, loss of
the light reflex and yellowish discolouration rather than the usual grey colour of the
tympanic membrane
Reduced tympanic membrane motility – as assessed by pneumatic otoscopy and/or
tympanometry
Clinical features of inflammation, that are either localised (eg. Pain) or Generalised (e.g. fever,
irritability)
Be wary of accepting ASOM as the sole diagnosis in an unwell infant with a fever. There may
be a coexistent serious bacterial infection
Often preceded by viral URTI, causative bacteria usually are:
Streptococcus pneumoniae.
Non-typeable Haemophilus infl uenzae.
Moraxella catarrhalis.
Management
Paracetamol
Consider antibtiotics
o Acute symptoms resolve without antibiotics within 24 h in most cases.
o Withhold in children >12 months who are only mildly unwell.
o amoxicillin p.o. 12 hourly for 5 days if allergic to penicillin
o Antibiotics do not reduce the incidence of recurrent ASOM or OME
Review in 48h, if unrevolved:
o Wrong diagnosis (e.g. viral URTI, serious bacterial infection).
o Failure to take the medication (antibiotics not given or vomited).
o Inappropriate antibiotic was prescribed
o Antibiotic reaction
o Uncommonly, a suppurative complication of ASOM may have developed (e.g.
mastoiditis, facial paralysis, labyrinthitis, intracranial infection).
o Consider performing: drainage of the ear (myringotomy) with or without
insertion of a tympanostomy tube
Middle ear effusion
o present for a variable period of time following ASOM
o associated with noticeable hearing loss, particularly if bilateral.
80% of cases at 2 weeks following ASOM.
10% at 3 months
o Review at 3 months is recommended, particularly if symptomatic hearing loss is
present
Recurrent ASOM
o common in the first 3 years of life and is generally a seasonal condition with a
peak winter and early spring, paralleling the incidence of viral URTI
o prophylaxis:
Limiting exposure to viral URTI
Long-term prophylactic antibiotics (e.g. co-trimoxazole for 6 weeks).
Insertion of tympanostomy tubes
o Otitis media with effusion (OME). → Glue ear
persistent middle ear effusion
associated with varying degrees of hearing loss, behavioural, language and educational
difficulties
usually resolves spontaneously over time
Factors to persistence → recurrent URTI, recurrent ASOM, poor eustachian tube function and
exposure to tobacco smoke
Management
Antibiotics
Eustachian tube exercises
Tympanostomy tubes if >3months
Anaphylaxis
may be severe and life-threatening, particularly when edema involves the retropharynx and/or larynx
In the lower airways, anaphylaxis usually causes bronchospasm
Onset is most often sudden, and there may be associated signs and symptoms, such as facial swelling,
urticaria, vomiting, dizziness, and/or syncope.
Foreign body
If partially obstructing airways → not usually acutely life-threatening, but often cause respiratory distress
Children with foreign bodies in the upper airway, or with esophageal foreign bodies compressing the airway,
are more likely to acutely develop severe symptoms, typically choking, drooling, dysphagia, and/or stridor
foreign body in the lower airway, most commonly manifests as unilateral wheeze, but presentation may be
delayed days to weeks and manifest as fever, rales, or cough due to infection
Children with significant upper airway obstruction may develop pulmonary edema following relief of the
obstruction
Rarely, foreign bodies lodged in the esophagus may compress the airway, causing partial airway obstruction.
Clinical
o Coughing or choking episodes while eating solid foods (classically nuts), or while sucking a small
plastic toy or similar object. This history should never be dismissed.
o Persistent coughing and wheezing.
o Beware of the sudden onset of a first wheezing episode in a toddler in whom there is no history of
allergy, especially if it follows a choking episode.
o Parents may not volunteer the history of possible inhalation (many foreign body aspirations are not
witnessed).
o Signs
There may be no physical signs or alternatively reduced breath sounds over the whole or
part of one lung.
Wheeze.
Investigations
o Full inspiration and full expiration CXR
should include the nasopharynx to the chest
Normal radiographs do not exclude a foreign body.
exclude obstructive hyperinflation or an area of collapse
Management
o Bronchoscopy
indicated for all patients with a suspected inhaled foreign body
high index of suspicion as aspirated foreign body is frequently missed
difficult and it requires an expert paediatric endoscopist
Rigid bronchoscopy is the procedure of choice.
In most cases the removal of the foreign body improves symptoms and there is rarely an
indication for corticosteroids or antibiotics.
o Acute
Give first aid (back slaps, chest thrusts) if obstruction occurs, otherwise allow the child to
cough. Do not instrument the airways if the child is coping, but summon an anaesthetist and
ENT surgeon. Give oxygen.
If complete obstruction occurs, attempt removal of an impacted laryngeal foreign body with
forceps – if this is unsuccessful, perform cricothyrotomy or tracheostomy
If respiratory failure is due to a foreign body lodged in the lower trachea or bronchi, attempt
ventilation via an endotracheal tube while organising endoscopic removal.
Airway anomalies
Fixed and functional congenital abnormalities
o vocal cord paralysis, mass, tracheal stenosis, ring, sling, tracheoesophageal fistula and
laryngomalacia
Pulmonary edema
Noncardiogenic pulmonary edema may occur from upper airway obstruction (such as from foreign body or
croup), pulmonary irritants, submersion injury, severe CNS insult and acute salicylate toxicity.
Cardiovascular conditions
Congenital heart disease
o with right-to-left shunting of deoxygenated blood result in reduced oxygen saturation of blood
entering the systemic circulation, causing hypoxia with cyanosis
Acute decompensated heart failure
o CHF, commonly by myocarditis and supraventricular tachycardia that persists for more than 12 to 24
hours
o Other conditions include valvular heart disease, myocardial dysfunction, sepsis, metabolic
disturbance, fluid overload, severe anemia, ischemia, and myocardial infarction.
o Respiratory manifestations of CHF include tachypnea, dyspnea, orthopnea, cough, wheeze, and rales
o Other manifestations include poor feeding, tiring with feeds, failure to thrive, pallor, diaphoresis,
tachycardia, murmur, gallop, rub, thready pulses, jugular venous distension, cardiomegaly,
hepatomegaly, and/or edema.
Pericarditis — Inflammation of the pericardium from pericarditis may cause chest pain that results in
splinting with respiration and if severe, could compromise cardiac output resulting in inadequate
oxygenation.
CYSTIC FIBROSIS
autosomal recessive
1/2,500 live births, mostly Caucasians
most common life-shortening inherited disease of childhood
mutation in transmembrane conductance regulator of chloride
o CFTR gene found on chromosome 7 (F508 mutation in 70%)
Screening
• Newborn screening for CF detects 90% of affected babies. All babies have a heel prick on day 2–4 and the blood
placed on a filter paper card. Serum trypsinogen is measured by immunoreactive assay (IRT).
Babies with an IRT >99th percentile have gene mutation testing for 12 common CF gene mutations. Babies with 2
CF gene mutations have CF and are referred to the CF clinic. Babies with 1 CF gene mutation are referred for a
sweat test at an approved laboratory. Those with a positive sweat test are referred to the CF clinic. Those with a
negative sweat test are healthy carriers and their families referred for genetic counselling.
DELTA F 508 MUTATION
• Most babies with an elevated IRT and no CF gene mutations do not have CF.
• This screening test can miss babies who have a falsely low IRT or an uncommon gene mutation. (The 12 most
common CF gene mutations are tested; >1200 have been identifi ed.) Internationally many countries do not
include CF in the newborn screening programme.
Screening began in the late 1980s/early 1990s in most Australian states. For these reasons any child with a
suspicious clinical history should be referred for a sweat test.
Family history
CF gene mutation analysis.
Genetic counselling for the extended family of patients with CF is offered routinely but most babies with CF
are born to families with no history of CF. For this reason preconceptual and pre-natal carrier testing of all
prospective parents is available.
Clinical features
o Neonatal
meconium ileus
prolonged jaundice
antenatal bowel perforation
o Infancy
pancreatic insufficiency with steatorrhea and FTT (but voracious appetite)
o Childhood
anemia, hypoproteinemia, hyponatremia
heat prostration
recurrent chest infections or wheezing (S. aureus, P. aeruginosa, H. influenzae)
hemoptysis
nasal polyps (associated with milder disease)
distal intestinal obstruction syndrome, rectal prolapse
clubbing of fingers
o Older patients
COPD and infertility
Complications
o respiratory failure o gallstones
o pneumothorax (poor prognostic sign) o cirrhosis with portal hypertension
o cor pulmonale (late) o infertility
o pancreatic fibrosis with diabetes o early death (current median survival
mellitus is 30 years)
Diagnosis
o sweat chloride test x 2 (> 60 meq/L)
false positive tests: malnutrition, Celiac disease, adrenal insufficiency, anorexia nervosa,
hypothyroidism, nephrogenic diabetes insipidus, nephrotic syndrome
false negative tests: peripheral edema, cloxacillin, glycogen storage disease,
hypoparathyroidism, atopic dermatitis, Klinefelter syndrome, hypogammaglobulinemia
o pancreatic dysfunction - determined by 3-day fecal fat collection
o genetics - useful where sweat chloride test is equivocal
o prenatal diagnosis for high risk families
o Classic clinical features of CF include:
Suppurative lung disease.
Pancreatic exocrine insuffi ciency (85% of patients), which manifests as steatorrhoea and
failure to thrive.
Multifocal biliary cirrhosis.
Meconium ileus.
Male infertility (absent vas deferens).
Elevated sweat electrolytes (occasionally presenting as hyponatraemic, hypochloraemic
metabolic alkalosis).
Management
o Nutrition
High fat and high calorie diet
pancreatic enzyme replacements
fat soluble vitamin supplements(A and E, occasionally D).
Salt supplementation.
o Management of chest disease
physiotherapy usually at least once daily. postural drainage
exercise
bronchodilators
antibiotics (depends on sputum C&S, e.g. cephalosporin, cloxacillin, ciprofloxacin, inhaled
tobramycin)
Bronchoalveolar lavage is done soon after diagnosis and then annually until the child can
expectorate sputum
Cough suction specimens are also taken at each clinic visit.
lung transplantation
The acquisition of chronic P. aeruginosa infection is associated with deterioration in lung
function and a poorer prognosis. An aggressive antibiotic approach may prevent chronic
infection and limit airway disease.
The aim of treating infection early is to eradicate Pseudomonas aeruginosa when
first identified.
o genetic counselling
Non-pulmonary complications of CF
Distal intestinal obstruction syndrome (DIOS)
• The accumulation of tenacious, muco-faeculent masses in the distal ileum or caecum which may become adherent
and calcify.
• The cause is unclear but appears to be associated with dehydration, fever, reduction of enzyme supplementation,
liver disease and the use of anticholinergic and opiate drugs.
• Although it occurs most frequently in those >15 years, it can occur at any age.
• DIOS presents acutely with signs of abdominal obstruction or more commonly, sub-acutely with cramping
abdominal pain and relative constipation. A mass is often palpable in the right iliac fossa.
• Other conditions which should be considered in the differential diagnosis include:
– Constipation.
– Intussusception.
– Acute appendicitis.
– Acute pancreatitis.
– Volvulus.
– Strictures of the colon or ileocaecal junction.
– Obstruction due to adhesions or strictures.
Other considerations in DIOS
• Check dose of pancreatic enzymes.
• Check timing of enzymes and consider possible mismatch in gastric emptying between food bolus and pancreatic
enzymes.
• Check adherence to medications.
• Ensure adequate dietary fibre and fluid intake.
• Ensure patient has a well-established toilet routine.
• Consider adding ranitidine or omeprazole if evidence of ongoing malabsorption.