WARD CLASS ON CYSTIC FIBROSIS

BY
JOHN MARK P. LOMOLJO
BSN IV - A5

Woe to that child who when kissed on the forehead tastes salty for he is cursed and soon must die .
Ancient Northern European Folklore
 Cystic fibrosis (CF) is an inherited
disease (autosomal recessive disorder)
of the mucus and sweat glands that
cause your mucus to be thick and
sticky. It represents the first genetic
disorder elucidated strictly by the
process of reverse genetics.
 Dorothy Hansine Andersen first
described cystic fibrosis of the
pancreas.

In 1938, she published an article

titled "Cystic fibrosis of the pancreas
and its relation to celiac disease: a
clinical and pathological study" in the
American Journal of Diseases of
Children.

She also first hypothesized that CF

was a recessive disease and first
used pancreatic enzyme replacement
to treat affected children.
 In 1952, Paul di Sant' Agnese discovered
abnormalities in sweat electrolytes; the sweat test
was developed and improved over the next
decade.

In 1988, the first mutation for CF, ΔF508, was

discovered by Francis Collins, Lap-Chee Tsui
and John R. Riordan on the seventh
chromosome. Research has subsequently found
over 1000 different mutations that caused CF.
PATHOPHYSIOLOGY OF CYSTIC FIBROSIS
 PATHOPHYSIOLOGY OF CYSTIC FIBROSIS

Cystic fibrosis occurs when there is a mutation in the CFTR gene.

When the CFTR protein does not work, chloride is trapped inside
the cell in the lung and outside in the skin. Because chloride is
negatively charged, positively charged ions also cannot cross into
the cell because they are affected by the electrical attraction of the
chloride ions.

Sodium is the most common ion in the extracellular space and the
combination of sodium and chloride creates the salt which is lost
in high amounts in the sweat of individuals with CF. This lost salt
forms the basis for the sweat test.
PATHOPHYSIOLOGY OF CYSTIC FIBROSIS
 PATHOPHYSIOLOGY OF CYSTIC FIBROSIS

The CFTR gene is found at the q31.2 locus of

chromosome 7, is 180,000 base pairs long, and
creates a protein which is 1,480 amino acids
long.

The most common mutation, ΔF508 is a deletion

(Δ) of three nucleotides that results in a loss of
the amino acid phenylalanine (F) at the 508th
(508) position on the protein.
 PATHOPHYSIOLOGY OF CYSTIC FIBROSIS

• CF gene located on
chromosome 7q
– Encodes a membrane
associated protein known
as the cystic fibrosis
transmembrane regulator
(CFTR)
– Part of Cyclic adenosine
monophosphate (cAMP)-
regulated chloride channel
that regulates choloride
and sodium across apical
membranes of epithelial
cells.
– 1000 different mutations of
the disease.
 PATHOPHYSIOLOGY OF CYSTIC FIBROSIS

The mutated gene produces a defective protein

Causes abnormal movement of salt in and out of the

cells

Results in dehydration and stickiness of mucous

membranes that surround organs and exocrine glands

Preventing proper function, especially lungs and

pancreas

Increased salt concentration of perspiration

Lungs produce sticky, thick mucus

Mucus will not travel to the top of the

lungs

Mucus cannot be coughed up or

swallowed

Unable to keep lungs “clean”

Bacteria build up in the mucus

Lining of airways become swollen

Airways produce more mucus to

remove bacteria

Repeated infections may cause scars

on the lungs; damage accumulates
• Mucus is made by the
lungs to defend
against germs
• Mucus and bacteria
moved to the top of the
lungs via cilia which
act like small brushes
• Once there it can be
coughed or swallowed
out of the lungs
 PATHOPHYSIOLOGY OF CYSTIC FIBROSIS

Four long-standing observations are of pathophysiologic

importance:

- Failure to clear mucous secretions

- A paucity of water in mucous secretions

- Chronic infection limited to the respiratory tract

- Elevated salt content of sweat and other serous

secretions
 PATHOPHYSIOLOGY OF CYSTIC FIBROSIS

The hallmark pathophysiologic change of CF include:

- abnormal elevation of sodium and chloride concentrations in

sweat

- pancreatic enzyme deficiency and impaired digestion

- excess mucus production in the respiratory tract with impaired

ability to clear secretions and progressive COPD
 PATHOPHYSIOLOGY OF CYSTIC FIBROSIS

The hallmark pathophysiologic change of CF include:

- abnormal elevation of sodium and chloride concentrations in

sweat

- pancreatic enzyme deficiency and impaired digestion

- excess mucus production in the respiratory tract with impaired

ability to clear secretions and progressive COPD
PATHOPHYSIOLOGY OF CYSTIC FIBROSIS
Complications of Cystic Fibrosis
 Complications of Cystic Fibrosis

Frequent complications of cystic fibrosis are chronic respiratory

infections, including pneumonia, bronchitis, chronic sinusitis and
bronchiectasis — an abnormal dilation of the walls of the bronchial
tubes that makes it more difficult to clear your airways. Asthma
can result from chronic inflammation of the bronchial lining.

Respiratory infections are common because thick mucus blocks

the airways and provides an ideal breeding ground for bacteria.
The most common infective agent in people with cystic fibrosis
is Pseudomonas aeruginosa — a bacterium that can cause
increased inflammation of the respiratory tract. Although
antibiotics can decrease the frequency and severity of attacks,
the bacteria are never completely eradicated from the airways
and the lungs.
Complications of Cystic Fibrosis
 Complications of Cystic Fibrosis

People with cystic fibrosis may also develop bleeding

from the lungs (hemoptysis), respiratory failure or
collapsed lung (pneumothorax) — a condition in which
lung air leaks into the chest cavity through a small hole
that forms in the lung's outer layer.

Lung disease eventually may cause the lower right

chamber (right ventricle) of the heart to fail. Ultimately,
complications from lung problems may prove fatal for
many people with cystic fibrosis.
 Complications of Cystic Fibrosis

In addition, cystic fibrosis makes you prone to chronic diarrhea

and severe nutritional deficiencies. That's because thick
secretions obstruct the ducts in your pancreas, preventing
enzymes that digest fats and proteins from reaching your
intestines. These secretions also prevent your body from
absorbing the fat-soluble vitamins A, D, E and K.

Cystic fibrosis affects the pancreas and because the pancreas

controls the level of sugar in your blood, up to one in five people
with cystic fibrosis may develop cystic fibrosis-related diabetes. In
addition, the bile duct, the duct that carries bile from your liver and
gallbladder to your small intestine, may become blocked and
inflamed, leading to liver problems such as cirrhosis.
 Complications of Cystic Fibrosis

Cystic fibrosis also affects the reproductive system.

Because thick secretions often block the tube
connecting the testes and prostate gland (vas deferens),
many men with cystic fibrosis are infertile. But certain
fertility methods and surgical procedures may
sometimes make it possible for men with cystic fibrosis
to become fathers.

Although women with cystic fibrosis may be less fertile

than other women are, it's possible for them to conceive
and to have successful pregnancies.
The signs and symptoms of cystic fibrosis in children and young adults may
include:

- Foul-smelling, greasy stools.

- Enlargement or rounding (clubbing) of the fingertips and toes. Although
clubbing eventually occurs in most people with cystic fibrosis, it also occurs in
some people born with heart disease and other types of lung problems.
- Delayed growth.
- Blockage in the bowels.
- Anal protrusion (part of the rectum through the anus) (rectal prolapse). This is
often caused by stools that are difficult to pass or by frequent coughing.
- Salty taste to the skin. People with cystic fibrosis tend to have higher than
normal amounts of salt (sodium chloride) in their sweat. This may be one of the
first signs parents notice because they taste the salt when they kiss their child.
- Infections in chest and sinus (frequent) with recurring pneumonia or
bronchitis.
- Coughing or wheezing.
- Sputum thick. It's easy for parents to overlook this sign because young
children tend to swallow their sputum rather than cough it up.
 Cystic fibrosis also may be accompanied by:

Growths (polyps) in the nasal passages

Cirrhosis of the liver due to inflammation or obstruction of the bile
ducts
Displacement of one part of the intestine into another part of the
intestine (intussusception) in children older than age 4

Many individuals with CF experience symptoms related to poor

digestion. These include:

Slow weight gain, in spite of a good appetite

Frequent, loose or large bowel movements
Bowel movements that contain mucus or oil
Gas, stomach pain and bloating
The diagnosis of cystic fibrosis (CF) is based on typical
pulmonary and/or gastrointestinal tract manifestations, a
family history, and positive results on sweat test.
Sweat testing involves application of
a medication that stimulates
sweating (pilocarpine) to one
electrode of an apparatus and
running electric current to a separate
electrode on the skin.
This process, called iontophoresis,
causes sweating; the sweat is then
collected on filter paper or in a
capillary tube and analyzed for
abnormal amounts of sodium and
chloride.
People with CF have increased
amounts of sodium and chloride in
their sweat. CF can also be
diagnosed by identification of
mutations in the CFTR gene.
Chest radiography: Initial changes are hyperinflation and
peribronchial thickening. Progressive airtrapping with
bronchiectasis may be apparent in the upper lobes.

With advancing pulmonary disease, pulmonary nodules

resulting from abscesses, infiltrates with or without lobar
atelectasis, marked hyperinflation with flattened domes
of the diaphragm, thoracic kyphosis, and bowing of the
sternum develop.

Pulmonary artery dilatation and right ventricular

hypertrophy associated with cor pulmonale is usually
masked by marked hyperinflation. Several radiologic
scoring systems exist.
This is the diagnostic criteria for Cystic Fibrosis:

Presence of typical clinical features (respiratory,

gastrointestinal, or genitourinary) OR
A history of CF in a sibling OR
A positive newborn screening test

PLUS

Laboratory evidence for CFTR dysfunction:

Two elevated sweat chloride concentrations
obtained on separate days OR
Identification of two CF mutations OR
Abnormal nasal potential difference measurement
 Multidisciplinary approach

Goals
Maintain adequate nutritional status
Prevent pulmonary complications
Encourage physical activity
Psychosocial support
 Medical Treatment
Oral and aerosol antibiotics:
Pseudomonas bacteria
B. cepacia (resistant)
Corticosteroids: slows decline of
pulmonary function
Ibuprofen: prevents inflammation and
thus progression of lung damage
Inhaled Medication
Bronchodilator
Adjunctive therapy
Lung transplant: prolongs life but not a
cure
Physiotherapy
 Physiotherapy
Prevents sticky lung
secretions that build up in
the small air tubes

Involves clearing each of

the five lobes of the lungs

Involves multiple physical

techniques
 Gravity Assisted Position
The use of different body
positions to achieve:
Drainage of secretions from
an area of the lung
Increased air flow to an
area of the lung
Use throughout
physiotherapy treatment
Segment to be drained is
uppermost
 Percussion and Vibration
Percussion: Clapping with hand in a
cupped position loosens secretions

Vibration: Shaking the chest firmly while

breathing out helps mobilize secretions
 Mechanical Vibrations
• Shakes the whole body
• May cause painful chest cramps
• $15,000
 Breathing Exercises
• Eases breathlessness and encourages
relaxation

• Reduce over inflation of upper chest

• Relaxation of the airways for enhanced

secretion clearing

• Pulls mucus towards large airways

 Coughing
• Essential in clearing the airways of mucus
via high speed airflow

• Forced exhalation followed by deep

inhalation

• May stimulate productive cough to remove

mucus
 Huffing
• Following each drainage the person will take a
deep breath and expel it quickly in a “huff”

• This will increase the effectiveness of the cough

by forcing the air and mucous out

• Like huffing onto a mirror or window to steam it

up
Nutritional Treatment
 Nutritional status assessment

 Meet increased energy requirements

 Control maldigestion and malabsorption

with enzymes

 Vitamin and mineral Supplementation

 Oral and/or GI tube feeding

Factors interfering with adequate
intake:
 Dyspnea
 Coughing
 GI discomfort
 Anorexia during infection
 Impaired sense of taste and smell
Increasing Energy
Requirements
 3 meals and 3 snacks
 Supplemental milkshakes
 Foods to add calories
 Whole milk, cheese, butter, margarine, oil
 Peanut butter spread
 Ice cream or whole milk yogurt
 Salad dressing and mayo
 Cream or half and half
 Cream cheese
 Sour cream
 Powdered milk
Tube Feeding
 Indicated for inadequate energy
intake and weight gain
 G-Tube or nasogastric tube
 Given at night
 Enzymes taken before and after
feeding
 Formulas contain MCTs
 Up to 500 kcal/8 oz
 Should not be last resort
Enzyme Therapy
 Treatment with enzyme extracts of porcine
origin
 Contain amylase, protease, and lipase
 Enteric-coated microspheres or microtablets
 Given before meals and snacks (half dose
with snacks)
 Hydrogen blocker or proton pump inhibitor
may be used to increase effectiveness
Vitamin Therapy
 Fat soluble vitamin deficiencies common
 Vitamin A: xeropthalmia
 Vitamin D: decreased bone density
 Vitamin E: hematologic and neurologic
complications
 Vitamin K: clotting abnormalities
 Monitor overdosing
 Patient instruction
 Yearly monitoring of serum levels
Mineral Intake
 Na requirements increased
 Monitor in hot weather, fever, physical exertion
 Sports drinks with electrolytes

 Minerals
 Evaluate on an individual basis
 Specifically iron, magnesium, calcium
Exercise
 Loosens mucus

 Build lung capacity

 Drink extra fluids

 6-12 oz every 20-30 minutes
 Sports drinks

 Avoid caffeine
Prognosis
 Varies greatly
 Continues to improve
 Deterioration is inevitable
 Mortality due to respiratory failure
 Median survival age 31 years
 Factors
 Female
 Pancreatic insufficiency
 Respiratory symptoms
Research
 Both symptom and cure based
 Increased difficulty with 1000 mutations
 Attempting to produce vector
 Aerosol HIV virus
 Antioxidants
 Oral N-acetycysteine: provides essential
building block for glutathione
 Inhaled glutathione
 April 2004 FDA requires standardization of
pancreatic enzymes
 THANK YOU FOR LISTENING

Cystic Fibrosis

Woe to that child who when kissed

on the forehead tastes salty.
Ancient Northern European Folklore