CYSTIC

FIBROSIS
GENETIC BASIS
AWARENESS OF THE CONDITION

Presented by: NETHAN H. DATO

WHAT IS CYSTIC FIBROSIS?
DEFINITION
Cystic fibrosis affects the cells that produce mucus, sweat and
digestive juices. These secreted fluids are normally thin and slippery.
But in people with CF, a defective gene causes the secretions to
become sticky and thick. Instead of acting as lubricants, the secretions
plug up tubes, ducts and passageways, especially in the lungs and
pancreas.

CAUSE
It is produced by a deviation (change) within a single gene described as the Cystic
Fibrosis Transmembrane Conductance Regulator (CFTR,) This controls the flow of salt
and fluids in and out of your cells. If the CFTR gene does not work as it should,
glutinous mucus mounts up throughout your body. To get CF, you have to receive a
mutated copy of the gene from both your parents. If you only inherit one copy, you
will not exhibit any symptoms, But you will be a carrier for the disease
DIGESTIVE SIGNS
AND SYMPTOMS
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)
RESPIRATORY SIGNS
AND SYMPTOMS
A persistent cough that produces thick mucus
(sputum)
Wheezing
Exercise intolerance
Repeated lung infections
Inflamed nasal passages or a stuffy nose
Recurrent sinusitis
 CURE?
Cystic fibrosis cannot be cured

TREATMENT
Several treatment options are available to help
manage symptoms and reduce complications.
Though incurable, medications can help in
managing symptoms.

Antibiotics: Given in the form of inhaled therapy

to improve lung function by impeding growth
of bacteria.

Anti-inflammatory drugs: To prevent

inflammation in the airway passage.

Mucus thinners: To help patients cough up

mucus and improve lung function.

Brochiodialators: To open up and relax muscles

around the brochia (lungs).
AWARENESS OF
THE CONDITION
NEED TO DO

01 If you or your child has symptoms of cystic

fibrosis or if someone in your family has CF talk
with your doctor about testing for the disease.
Consult a physician who is knowledgeable about
CF.

NEED TO DO

02 Cystic fibrosis requires consistent, regular follow-up with

your doctor, at least every three months. Contact you
doctor if you experience new or worsening symptoms,
such as more mucus than usual or a change in the
mucus color, lack of energy, weight loss, or severe
constipation.
PROVIDE THE BEST
SERVICES
PREVENTION
If you or your partner has close relatives with cystic
fibrosis, you both may choose to have genetic
testing before having children. The test, which is
performed in a lab on a sample of blood, can help
determine your risk of having a child with CF.

If you're already pregnant and the genetic test

shows that your baby may be at risk of cystic fibrosis,
your doctor can conduct additional tests on your
developing child.
Genetic testing isn't for everyone. Before you decide
to be tested, you should talk to a genetic counselor
about the psychological impact the test results
might carry.
THANK YOU
FOR
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