Cystic fibrosis

• Cystic fibrosis is a genetic condition. It's caused by a faulty gene that

affects the movement of salt and water in and out of cells. This, along
with recurrent infections, can result in a build-up of thick, sticky
mucus in the body's tubes and passageways – particularly the lungs
and digestive system
What is the main cause of cystic fibrosis?

• Cystic fibrosis (CF) is a disease that is passed down through families. It

is caused by a defective gene that makes the body produce
abnormally thick and sticky fluid, called mucus. This mucus builds up
in the breathing passages of the lungs and in the pancreas
pathophysiology

• CF is caused by a mutation in the CF transmembrane conductance

regulator (CFTR) gene. The CFTR protein produced by this gene
regulates the movement of chloride and sodium ions across epithelial
cell membranes.
What is the mechanism of action of the cystic
fibrosis?
• When the protein is not working correctly, chloride — a component
of salt — becomes trapped in cells. Without the proper movement of
chloride, water cannot hydrate the cellular surface. This leads the
mucus covering the cells to become thick and sticky, causing many of
the symptoms associated with cystic fibrosis.
People with CF can have a variety of symptoms,
including:

• Very salty-tasting skin.

• Persistent coughing, at times with phlegm.
• Frequent lung infections including pneumonia or bronchitis.
• Wheezing or shortness of breath.
• Poor growth or weight gain in spite of a good appetite.
Diagnosing cystic fibrosis
1. a sweat test – to measure the amount of salt in sweat, which will be
abnormally high in someone with cystic fibrosis.
• To understand what the sweat test results mean, a chloride level of:

• Less than or equal to 29 mmol/L = CF is unlikely regardless of age*.

• Between 30 - 59 mmol/L = CF is possible and additional testing is
needed.
• Greater than or equal to 60 mmol/L = CF is likely.

2- a genetic test – where a sample of blood or saliva is checked for the faulty
gene that causes cystic fibrosis.
signs and symptoms
Respiratory signs and symptoms

• The thick and sticky mucus associated with cystic fibrosis clogs the tubes that
carry air in and out of your lungs. This can cause signs and symptoms such as:

• A persistent cough that produces thick mucus (sputum)

• Wheezing
• Exercise intolerance
• Repeated lung infections
• Inflamed nasal passages or a stuffy nose
• Recurrent sinusitis
Digestive signs and symptoms

• Digestive signs and symptoms

• The thick mucus can also block tubes that carry digestive enzymes from your
pancreas to your small intestine. Without these digestive enzymes, your
intestines aren't able to completely absorb the nutrients in the food you eat.
The result is often:

• Foul-smelling, greasy stools

• Poor weight gain and growth
• Intestinal blockage, particularly in newborns (meconium ileus)
• Chronic or severe constipation, which may include frequent straining while
trying to pass stool, eventually causing part of the rectum to protrude outside
the anus (rectal prolapse)
Does cystic fibrosis cause clubbing?
• Diseases which cause malabsorption, such as cystic fibrosis or celiac
disease can also cause clubbing. Clubbing may result from chronic low
blood-oxygen levels. This can be seen with cystic fibrosis, congenital
cyanotic heart disease, and several other diseases.
Treatment
• Treatment options include 7:

• prolonged courses of antibiotics

• oral and inhaled corticosteroids
• pancreatic enzyme supplementation: required in 85% cases
• vitamin supplementation
• insulin
• physiotherapy
• lung transplantation
How do breathing treatments help cystic fibrosis?

• Airway clearance techniques help loosen lung mucus so it can be

cleared, reducing infections and improving breathing. The techniques
include special ways of
• breathing and coughing,
• devices used by mouth and therapy vests that use vibrations to
loosen mucus,
• and chest physical therapy.
• bronchodilators and hypertonic normal saline nebulizer
• Inhaled bronchodilators
What Can I Do To Keep My Baby Healthy?
• avoiding germs,
• eating smart,
• taking digestive enzymes,
• keeping lungs clear of mucus.