Transcript Διαφάνεια 1 - Aristotle University of Thessaloniki

CYSTIC FIBROSIS
FANOURAKI MARIA
27137
CHARALAMPIDOU ALEXANDRA 27138
CYSTIC FIBROSIS (CF)
What is CF?
CF is a genetic, inherited and non contagious
disorder characterized by the affection of the body’s
exocrine glands and airways, preventing them from
functioning properly. It is one of the most common
disorders in Caucasians (1 in 22 is a carrier and 1 in
3300 is a CF patient).
Genetics
CF is a genetic disorder because it
is caused by mutations in the CFTR
gene. This gene (located on
chromosome 7) encodes the CFTR
protein which is important for the
proper function of epithelium cells. A
patient has 2 copies of the mutated
gene (Mendelian autosomal
recessive inheritance).
The most common mutation is
known as delta-508.
Pict.1 i)
The normal sequence
of the CFTR gene.
ii) The delta-508 mutation
How does CF affect the body?
CF sufferers produce an abnormal CFTR
protein that doesn’t function properly and
eventually leads to the presence of high
levels of salt in patients’ sweat and the
production of thick and viscous secretions.
This pathological condition affects the
respiratory, digestive and reproductive
system.
Pict.2: The CFTR protein
How does CF affect the respiratory
system?
CF affects both the lungs and the
sinuses. Patients suffering from CF
produce thick, sticky mucus in excess
within their airways. This secretions
become impossible to be removed
normally from the respiratory system.
Eventually they block the small airways
which then become easily inflamed. As
the disease progresses the changes that
take place in the respiratory system lead
to reduced ability of the lungs to transfer
oxygen to the blood and to all body’s
tissues.
Pict.3: Α patient’s lung.
Blue and green colors
show the airways,
clogged by mucus.
How does CF affect the digestive
system?
In patients with CF the viscous mucus
that is produced from the epithelial
cells, obstructs the ducts of the
pancreas, the gastrointestinal tract, also
the bile ducts and some of the salivary
glands. So, it is difficult for their
products to be secreted. Therefore,
there is food maldigestion and
malabsorption.
Pict.4: The digestive
system
How does CF affect the
reproductive system?
In males CF causes abnormal
development of the vas
deferens and problems with
sperm transport.
In females CF causes the
production of too thick cervical
secretions.
Symptoms
Repeated sinus and respiratory infections
Collapsed lung (pneumothorax)
Chronic cough often accompanied by gagging,
vomiting and disturbed sleep
Coughing up blood (hemoptysis)
Wheezing and breathing difficulty
Nasal polyps (bumps inside the nose)
Nasal congestion
Abundant respiratory secretions
Barrel-shaped chest
Clubbed fingers and toes
 “Failure to thrive” (a condition where a child doesn’t
gain weight or grow in height normally)
Vitamin and mineral deficiency which may lead to
night blindness, rickets, bleeding disorders and anemia
Rectal prolapse (a condition where the lining of the
large intestine protrudes through the anus)
Stomach aches
Meconium Ileus (a form of intestinal obstruction in
newborns) may lead to perforation of the intestinal wall
or a twisted intestine
Bright or echogenic bowel (when they can see a
Meconium Ileus in development in the uterus
Chronic diarrhea
Frequent, greasy, bulky, foul-smelling stool
Declining physical endurance
Splenomegaly
Delayed puberty
Foul-smelling breath
Insulin-dependent diabetes
Cirrhosis
Salty sweat and skin
Dehydration
Sterility in males-decreased fertility in females
Heart failure
Diagnosis
Sweat testing: It has been the most common
method to diagnose CF for 40 years. The test
reveals the amount of chloride in sweat.
Elevated levels (more than 60 mmol/L) prove
the existence of CF.
Trypsinogen test: It is a quite common test
that measures the amount of an enzyme
(trypsinogen) in the blood. High levels suggest
CF.
Chest X-Rays
Lung function tests
Fecal fat test: It determines the amount of fat
in the stools and dietary fat that is unabsorbed.
Treatment
Gene therapy: Α normal CFTR gene is transferred
into the patient’s cells living in the respiratory tract.
The normal gene produces a functional CFTR
protein.
Antibiotics: Τhey are used against infections.
Aerosol sprays: Τhey fight breathing problems.
Pancreatic Enzyme Replacement Therapy
(PERT): Capsules are taken with every meal or
snack. They contain enzymes that are essential for
food digestion.
The “flutter”: It is a device that clears the mucus
which clog the patient’s airways.
Nutritional support: There is excessive need for
vitamins, enzymes, proteins, fats and salt.
…and some interesting
things about CF
 Most people ignore CF, although it is the most
common genetic disorder in our race.
 Over 1000 mutations in the CFTR gene have
been found to cause CF.
 The median survival is approximately 40 years,
whereas in 1950’s it was 8 years.