Cystic Fibrosis Unveiled: A Case
Study
Prepared by:
Exequiel Ian R. Verzosa
Gianne Karlo R. Bugto
Rav Rainier M.Sare
What is Cystic Fibrosis
(CF)
-Cystic fibrosis (CF) is an
inherited disorder that
causes extensive damage
to the lungs, digestive
system, and other organs.
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Dr. Dorothy Hansine
Andersen (1901-1963)
American pathologist and the
one who discovered cystic
fibrosis.
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Dr. Dorothy Hansine
Andersen (1901-1963)
American pathologist and the
one who discovered cystic
fibrosis.
-"cystic fibrosis of the pancreas”
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Dr. Dorothy Hansine
Andersen (1901-1963)
American pathologist and the
one who discovered cystic
fibrosis.
-"cystic fibrosis of the pancreas”
-"Mucoviscidosis”
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There are five major classes of cystic fibrosis
Class#1
These mutations result in the absence of CFTR protein
because they cause premature stop codons in the mRNA,
leading to non-functional or truncated proteins.
Class#2
leads to misfolding of the CFTR protein, causing it to
be degraded by the cell's quality control mechanisms
before reaching the cell membrane.
Class#3
The CFTR protein reaches the right place, but it doesn't work
properly, so it can't control the flow of chloride, which is
important for things like the sweat test.
Class#4
is a conduction mutation which causes changes in the
amino acids in the CFTR protein, affecting the movement of
the protein.
Class#5
Class Five is when there are insufficient amounts of the CFTR
protein in the body, causing chloride to accumulate which leads
to the mucus buildup.
Burkholderia Cepacia
(B. Cepacia)
These are the observable physical
characteristics of people with Cystic Fibrosis:
thick mucus
constipation
constant coughing
breathing troubles
greasy, foul-smelling
stools
salty-tasting skin
nasal polyps
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These are the observable effects Cystic
Fibrosis can have on an individual’s cognition:
Nutrition-related Academic Performance
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These are the observable effects Cystic Fibrosis
can have on an individual’s emotional state:
Medical Traumatic Stress Fear
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These are the observable effects Cystic Fibrosis
can have on an individual’s social interactions:
Limits on Close Contact
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AFFECTED CHROMOSOME/GENES IN CYSTIC FIBROSIS
chromosome 7
known as CFTR
(cystic fibrosis
transmembrane
conductance
regulator)
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MODE OF INHERITENCE OF CYSTIC FIBROSIS
PROBABILITY OF CF PATIENTS AROUND THE WORLD
162,428 individuals - 94 countries
(Guo et al., 2021)
PROBABILITY OF CF PATIENTS IN EUROPE
Ireland: 1:19 (carriers)
Finland: 1:25,000 (Kere et al., 1994)
Western Europe: 1:4,500 (Scotet et al., 2022)
Northern and Central Europe: 1:6,000 (Scotet et al., 2022)
PROBABILITY OF CF PATIENTS IN NORTH AMERICA
Canada & USA: 1:3,000 to 1:5,000 (Stephenson
et al., 2022)
Americans of caucasian descent 1:2,500-3,500
African descent: 1:17,000
Asian descent: 1:31,000
Amish in Ohio (1:569 live births)
“founder effect” (Wood Klinger, 1983)
PROBABILITY OF CF PATIENTS IN LATIN AND SOUTH
AMERICA
estimated to happen in between
1 in 1,600-14,000 live births
PROBABILITY OF CF PATIENTS IN ASIA AND MIDDLE EAST
East Asia, the Middle East has higher incidence
rates (varying from 1 in 2,560 in Jordan to 1 in
350,000 in Japan),
The population of India is estimated to be between
one in 10,000 (Priscilla, n.d.) and one in 100,000
(Kabra et al., 2003)
PROBABILITY OF CF PATIENTS IN PHILIPPINES
The prevalence of cystic fibrosis (CF) in the Philippines is
unknown due to a lack of comprehensive data (Almonte,
MD, MHPEd et al., 2023) (Ahmed et al., 2020)
"prominent absence" of data on CF patients in the country.
Among newborn Filipinos in California, there were 5 cases
of CF from 2005 to 2011, with a prevalence rate of 1:22,225
(Padilla and de la Paz, 2012)
TREATMENTS
Cystic fibrosis cannot be cured, however
there are treatments and medications.
MEDICATION (MEDICATION FOR CF CAN BE
SWALLOWED, INJECTED OR INHALED)
Antibiotics
Bronchodilators
Mucus thinners
Anti-inflammatories
THERAPIES AND OTHER TREATMENTS AND SURGERIES
Chest Physical Therapy (CPT)
Airway Clearance Devices Therapy
Pulmonary Rehab
Oxygen Therapy
Feeding Tube
Nasal Polyp Surgery
Endoscopy and Lavage
Lung Transplant
OUR CASE STUDY SUBJECT
Name: Mr. Blake Wills
Age: 19 years old
Nationality: English
Diagnosed with CF during his 5th month
after birth
Classes 1, 2, and 3
He also has liver disease and type 2
diabetes
Image courtesy of Blake Wills
OUR CASE STUDY SUBJECT
Medications include: “challenges are all ‘mental’”
Paravit®-CF “To everyone else you're fine,
Co-trimoxazole but you put in so much effort
Colobreathe each day to show up to school
Tobramycin or work and do normal
Dornase Alfa everyday things despite the
Kaftrio struggle”
Pancrelipase “Try your best each day!”
Lansoprazole
Ursodeoxycholic acid
Insulin aspart
“Stay positive at all times! If you let yourself get too negative
and fall into a hole, it's really hard to get out of. No matter
what the hospital tells you, you can put on weight and you
Image courtesy of Blake Wills can increase your lung function as much as you want. Just
takes a lot of consistency and effort.”
References
Home | Cystic Fibrosis Foundation. (2021). Cff.org. https://www.cff.org/
What Is Cystic Fibrosis? (2023, November 21). NHLBI, NIH.
https://www.nhlbi.nih.gov/health/cystic-fibrosis
Koscik RL, Farrell PM, Kosorok MR, Zaremba KM, Laxova A, Lai HC, Douglas
JA, Rock MJ, Splaingard ML (2004, June). Cognitive function of children
with cystic fibrosis: Deleterious effect of early malnutrition. Pediatrics.
https://pubmed.ncbi.nlm.nih.gov/15173473/
Cystic fibrosis: MedlinePlus Genetics. (n.d.).
https://medlineplus.gov/genetics/condition/cystic-fibrosis/
Grieve et al. (2011). Associations Between Academic Achievement and
Psychosocial Variables in Adolescents With Cystic Fibrosis. Journal of School
Health, American School Health Association.
https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1746-1561.2011.00648.x
THANK YOU AND GOD BLESS!!
