Cystic Fibrosis

CYSTIC FIBROSIS
CYSTIC FIBROSIS
Cystic fibrosis is an inherited
disease of the mucus glands
that affects many body
systems. In particular, this
disorder causes progressive
damage to the respiratory
system and chronic digestive
system problems.
CYSTIC FIBROSIS
Cystic fibrosis is a hereditary disorder of the
exocrine glands, with a high sodium chloride
content in sweat and pancreatic insufficiency
resulting in mal-absorption. There is hypertrophy
and hyperplasia of mucus secreting glands
resulting in excessive mucus production in the
lining of the bronchi, which predisposes the
patient to chronic bronchopulmonary infection.
Cystic fibrosis (CF)
• Most common hereditary multisystemic disease

• Autosomal recessive disorder
• Cause: mutations in the single gene on the long
arm of chromosome 7 that encodes cystic fibrosis
transmembrane conductance regulator (CFTR)
GENETICS OF CF
• Most common mutation
– Occurs in 70% of CF chromosomes.
– A defect in the CFTR gene causes cystic fibrosis (CF). This
gene makes a protein that controls the movement of salt
and water in and out of your body's cells. In people who
have CF, the gene makes a protein that doesn't work well.
This causes thick, sticky mucus and very salty sweat
CF is a disease of exocrine gland function,
involving multiple organ systems and chiefly
resulting in chronic respiratory infections,
pancreatic enzyme insufficiency, and associated
complications in untreated patients. Pulmonary
involvement occurs in 90% of patients surviving
the neonatal period. End-stage lung disease is
the principal cause of death.
Mucus is a slippery substance that lubricates
and protects the linings of the airways,
digestive system, reproductive system, and
other organs and tissues. In people with cystic
fibrosis, the body produces mucus that is
abnormally thick and sticky
PATHOPHYSIOLOGY
• Gastrointestinal
– Pancreas
• Absence of CFTR limits function of chloride-bicarbonate
exchanger to secrete bicarbonate
• Leads to retention of enzymes in the pancreas,
destruction of pancreatic tissue.
– Intestine
• Decrease in water secretion leads to thickened mucus
and dessicated intraluminal contents
• Obstruction of small and large intestines
This abnormal mucus can obstruct the
airways, leading to severe problems
with breathing and bacterial infections
in the lungs.
These infections cause chronic coughing,
wheezing, and inflammation. Over time, mucus
buildup and infections result in permanent lung
damage, including the formation of scar tissue
(fibrosis) and cysts in the lungs.
Clinical features of Cystic Fibrosis
• Chronic Sino-Pulmonary Disease
• Nutritional deficiency
• Electrolyte abnormality – high level of sodium in blood
• Nasal polyps – benign lesions in nasal airways
• Frequent fowl- smelling stools
• Intestinal abnormality
• Hepatobiliary disease
• Pancreatic endocrine dysfunction
• Infertility
Chronic Sino-Pulmonary Disease
• Chronic infection with CF pathogens
• Endobronchial disease
– Cough producing copius, often purulent sputum
production
– Air obstruction--- dyspnea, wheezing; evidence of
obstruction on PFTs
– Digital clubbing - Bulbous swelling at end of fingers
– Chest x-ray anomalies
Diagnosis of cystic fibrosis
• One or more clinical features of CF
PLUS
• Two CF mutations
OR
• Two positive quantitative pilocarpine iontophoresis
sweat chloride values
Cystic fibrosis---Treatment
Multidisciplinary
• Airway Clearance
• Infection
• Nutrition
• Gastrointestinal
• Inflammation
• Infertility
• Social Issues
Medical Management (Respiratory)
• Antibiotics
• Bronchodilators
• Oxygen therapy
• Mucolytic agents
Physical therapy Management
Aims:
• To reduce bronchospasm and to clear the lung
fields
• To encourage activities for maintaining
physical fitness/increase exercise tolerance
• To train postural awareness and relaxation
• To educate the patient in self-management.
Clearing lung fields:
• Nebulization
• Positioning
• Postural drainage
• Percussion, shaking and vibration
Increasing exercise tolerance

• Aerobic exercise training
• Physical activities
• Participation in home and school activities
Postural awareness
Relaxation techniques
- Diaphragmatic breathing and breathing
control
- Generalized relaxation techniques
FLUTTER
• The Flutter device was developed in Switzerland
and combines positive expiratory pressure
therapy with high–frequency oscillations within
the airway.
• It is a controlled vibration system which
produces positive expiratory pressure and cyclic
oscillation of the airways during expiration. The
Flutter device is a portable device designed to
help clear mucus in patients with lung disorders
ACEPELLA
• The Acapella is a handheld airway clearance device
that operates on the same principle as the Flutter, i.e. a
valve interrupting expiratory flow generating oscillating
PEP. The Acapella comes in three models, a low flow
(<15 L/min), high flow (>15 L/min) and the Acapella
Choice. The high and low flow models have a dial to set
expiratory resistance while the Choice model has a
numeric dial to adjust frequency. All models can be
used with a mask or mouthpiece and can be used in
line with a nebulizer.

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CYSTIC FIBROSIS

• Most common hereditary multisystemic disease

Increasing exercise tolerance

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