CYSTIC FIBROSIS

JESSLYN G11 (2023-10-23)

 INHERITANCE CHANCES

PARENT CARRIER HAVE

Cystic Fibrosis is a recessive genetic
CARRIER 1/4 1/2 disease. You must have 2 copies of the
mutated gene.
HAVE 1/2 1
INHERITANCE CHANCES
 WHAT.
“ Cystic fibrosis is an inherited condition
that causes sticky mucus to build up in the
lungs and digestive system. This causes
lung infections and problems with
digesting food. “ - NHS
NHS (UK BPJS)
LET’S GET A FEW THINGS
OUT OF THE WAY…
 IS IT FATAL?
Can lead to lung problems.
Half would live more than 47 years
HOW COMMON IS IT?
100,000 people have it.
Actually quite common.
CAN IT BE CURED?
 OK.
So, how does it work? Or doesn’t work…
IMAGINE THIS:
FOR WHATEVER REASON, YOU HAVE TWO BOTTLES.

One filled with water, The other, slime.

WATER FLOWS EASILY,
SLIME DOES NOT.
THAT’S THE DIFFERENCE!
Healthy mucus is thin. Thick mucus is bad.
 NORMAL CF
The CFTR (Cystic Fibrosis Transmembrane The CFTR (Cystic Fibrosis Transmembrane
Regulator) protein that controls Na & water Regulator) protein that controls Na & water
movement works. movement does not work.

Salt & water levels are balanced Salt & water levels higher in the cell, water
osmosis towards the cell, causing mucus
lining outside to dehydrate.
 DELETION OF:
Phe at position 508 causes the wrong
folding (shift in sequence)
FURTHER READING
CAN OCCUR
where
 LUNG
PANCREAS
LIVER
INTESTINE
SWEAT GLAND
BEFORE WE GET TO THE
FUN PART,
Symptoms!
DO YOU HAVE…
 FROM THE NHS (AGAIN)
- Recurring chest infections
- Wheezing
- Coughing
- Shortness of breath
- Damage to airways
- Difficulty putting on weight
- Not growing (apparently)
- Yellowing skin and white of eyes
- Diarrhoea
- Constipation
- Large smelly poo????
- Bowel obstruction (if you’re a newborn)
THEN YOU MIGHT HAVE
CYSTIC FIBROSIS.
GO TO A DOCTOR.
 IF YOU WERE BORN IN
THE UK YOU’D KNOW IF
YOU HAD CF.
PERSONALLY, I DIDN’T
REMEMBER GETTING
SCREENED. PROBABLY
DIDN’T BECAUSE
APPARENTLY CF IS NOT
SCREENED FOR IN
INDONESIA ???? IDK MAN
BUT THIS FEELS
IMPORTANT YA KNOW.
MAYBE EVEN A LIL BIT
 SWEAT GENETIC
High salt content in sweat. Take a sample, check for faulty gene.

Because electric gradient is destroyed and Check to see if you were missed or if you
salt stays in the sweat. are a carrier.
 CAN’T BE CURED
CAN BE MANAGED
 MEDICINE

PHYSICAL ACTIVITY

AIRWAY CLEARANCE TECHNIQUE

(BREATHING TIPS)

DIETARY TIPS
(HIGH CALORIE, VITAMIN & MINERALS
+ ENZYME CAPSULES

LUNG TRANSPLANT?????
PEP
(POSITIVE EXPIRATORY DEVICE)
IT DON’T LOOK GOOD
 RESPIRATORY COMPLICATIONS
- Damaged airways (bronchiectasis) : widening or scarring of airways makes air
movement harder
- Chronic infections : mucus is a bacteria breeding ground (mmm pneumonia)
- Nasal polyps
- Coughing up blood (hemoptysis) : waduh
- Pneumothorax : air leaks into space between lung & chest wall
- Respiratory failure : Too much damage to lung tissue
- Acute exacerbations : coughing with more mucus & worsening body conditions
 DIGESTIVE COMPLICATIONS
- Nutritional deficiencies : block digestive enzymes from pancreas to intestine. Can’t
absorb nothing
- Diabetes : blocks insulin transportation from pancreas everywhere else
- Liver disease : bile transport inhibited.
- Intestinal obstruction
- Distal intestinal obstruction syndrome : small intestine & large intestine meeting spot
is obstructed (very bad)
 REPRODUCTIVE COMPLICATIONS
- Infertility (men) : tube between testes & prostate gland is blocked
- Reduced fertility (women)
 OTHER COMPLICATIONS
- Osteoporosis
- Electrolyte imbalances
- Mental health problems
OK THAT’S ALL
THANK YOU :)
 SOURCES
- https://www.nhs.uk/conditions/cystic-fibrosis/#:~:text=Cystic%20fibrosis%20is%20a%20genetic,the%20lungs%
20and%20digestive%20system.
- https://www.lung.org/lung-health-diseases/lung-disease-lookup/cystic-fibrosis/learn-about-cystic-fibrosis#
:~:text=People%20with%20this%20condition%20produce,30%20Americans%20is%20a%20carrier.
- https://www.cysticfibrosis.org.uk/what-is-cystic-fibrosis/faqs
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8616376/#:~:text=The%20CFTR%20protein%20is%20known,key
%20role%20in%20salt%20absorption.
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3643519/
- https://www.nhs.uk/conditions/cystic-fibrosis/treatment/
- https://www.nhs.uk/conditions/cystic-fibrosis/treatment/
- https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700#:~:text=Cy
stic%20fibrosis%20is%20a%20disorder,mucus%2C%20sweat%20and%20digestive%20juices.