Transcript Basic Review of Cystic Fibrosis, Part 2 of 3

Cystic Fibrosis
Part 2
"Woe to that child which when kissed on the forehead
tastes salty. He is bewitched and soon must die." This
European adage accurately describes the fate of an
individual diagnosed with cystic fibrosis during
ancient times.
Diagnosis
• Patients present with
persistent pulmonary
infections, pancreatic
insufficiency, and
elevated sweat
chloride levels
• Adults are more likely
to present with GI
symptoms, diabetes,
and infertility
• As of 2010 CF
newborn screening is
required in all states
Diagnostic Criteria
• BOTH of the following criteria must be
met to diagnose CF:
1. Clinical symptoms consistent with CF in
at least one organ system, AND
2. Evidence of CFTR dysfunction (any of
the following):
• Elevated sweat chloride ≥60 mmol/L (on two
occasions)
• Presence of two disease-causing mutations in
CFTR from each parental allele
• Abnormal nasal potential difference
Sweat Chloride Test
• Remains the primary
test for the diagnosis
of CF.
• Intermediate results
of sweat testing
should be clarified by
DNA analysis using a
CFTR multi-mutation
method, and sweat
chloride testing
should be repeated.
Treatment and Survival
• Although CF shortens lifespan, survival
has dramatically increased from the
1950’s
– Between 1985 and 2007 the median
lifespan increased from 25 to 37 years
• 45% of CF patients are >18 years old
• 10% of CF patients are >40 years old
• In 2011 the median predicted survival
for patient in the United States was
36.8 years
Cornerstones of Chronic Cystic Fibrosis
Therapy
• Airway clearance
– Manual percussion,
oscillating vest, flutter
valve
• Mucolytic dornase alfa
• Nebulized antibiotics
– Tobramycin
– Colistimethate,
aztreonam
• Oral azithromycin
• Inhaled hypertonic
saline
• Aggressive antibiotic
therapy for
exacerbations
• Nutritional support
– High-caloric, high salt
diet
• Replacement of fatsoluble vitamins ADEK
• Exercise
Pulmonary Treatments
Ivacaftor (Kalydeco®)
• Only for patients with G551D mutation
• 150 mg by mouth twice daily with high
fat meal
• Improves chloride transport by
potentiating CFTR
• Decreases sweat chloride, increases
FEV1, increases weight, decreases
exacerbations, increases quality of life
Dornase Alfa (Pulmozyme®)
• Reduces mucous viscosity
• Dosed at 2.5 mg daily or twice daily
• Administered via nebulizer and should
not be mixed with other drugs
• Improves FEV1 and decreases
exacerbations
Hypertonic Saline
• Improves airway clearance by hydrating
the airway surface liquid
• 3% or 7% saline twice daily to four
times daily
• Administered via nebulizer
• Improved FEV1 and decreased
exacerbations
Inhaled Tobramycin (TOBI)
• Antipseudomonal aminogylcoside
antibiotic
• Dosed at 300 mg inhaled every 12 hours
for 28 days and then not taken for 28 days
• Must be used with PARI-LC PLUS
handheld nebulizer
• Administer TOBI last and do not mix with
other inhaled medications
• Improves FEV1 and decreases
exacerbations
Aztreonam (Cayston®)
• Antipseudomonal antibiotic
• Dosed at 75 mg inhaled every 8 hours
for 28 days and then off for 28 days
• Utilizes Alteral Nebulizer System. Do
not mix with other inhaled medications
• Improves FEV1 and decreases
exacerbations
Azithromycin (Zithromax®)
• Antibiotic that does not have antipseudomonal activity also exhibits
some anti-inflammatory properties
• Dosed at 250 or 500 mg orally three
times a week
• Decreases exacerbations