CYSTIC FIBROSIS

CYSTIC FIBROSIS
Definition
Cystic fibrosis (CF) is a hereditary disorder of
exocrine glands, with a high sodium chloride content
in sweat and pancreatic insufficiency resulting in
malabsorption. There is hypertrophy and hyperplasia
of mucus-secreting glands resulting in excessive
mucus production in the lining of bronchi, which
predisposes the patient to chronic bronchopulmonary
infection
 Most common heredity disorder
Transmitted by recessive gene
Cystic fibrosis is the most common life shortening
autosomal recessive disorder in the Caucasian
population. It is caused by mutations in a single
gene on the long arm of chromosome 7 that
encodes the cystic fibrosis transmembrane
conductance regulator (CFTR)
Clinical features
Onset is gradual
Age: young
Sex: both, common in males, clubbing is present
Pulmonary:
Cough, sputum, recurrent pneumonia (staphylococcal aureus,
pseudomonas aeruginosa), bronchospasm, haemoptysis,
pneumothorax, chronic cor-pulmonale, effort intolerances, barrel
shaped chest, creps at lung base, rhonchi may be present
Upper respiratory track:
Evidences of chronic sinusitis and nasal polyp may also
be present
Gastrointestinal:
Meconeum ileus in neonates,
Hernia and rectal prolapse are common
Hepatobiliary:
Cirrhosis and portal hypertension, biliary cirrhosis, gall
stones.
Pancreatic:
Chronic pancreatitis, pancreatic fibrosis, fat, protein
malnutrition, steatorrhoea, vitamin deficiency, diabetes,
rare acute pancreatitis.
Salivary glands:
Features of inflammation may be seen
Genitourinary:
Obstructive Azoospermia leading to male infertility. Low
fertility rate in females may rarely develop.
Investigations:
Pulmonary function test low FVC, airflow rate and total lung
capacity
Air trapping and low diffusing capacity
In advanced stages obstructive and restrictive patterns of
dysfunctions are present.
Arterial blood gases shows low PaCO 2
Chest x ray shows evidence of hyperinflation, peri bronchial
cuffing, mucus plugging, focal atelectasis, increased interstitial
marking, bronchiectasis.
Sweat test:
Pilocarpine iontophoresis shows elevated level Na+ and Cl- ions.
Treatment:
Treatment mainly concentrates on
respiratory complications
Antibiotics used to control respiratory
infections
Bronchodilators
Steroids for children - prednisone
Surgery:
Lung transplantation
 Physiotherapy management for
lung infections

Major objectives
Promote clearance of secretions
Control lung infection
Provide adequate nutrition
Prevent intestinal obstruction
Means
>95% of CF patients die from
complications of lung infection
Breathing exercises
Flutter valves
Chest percussion
Postural drainage