Professional Documents
Culture Documents
fibrosis
Prepared by: Yousif Aryan Omer
Awyar Pshtiwan Hakim
Ahmad Yasin Hussein
Saja Ali Fahd
Hiran Hiwa Abubakr
01 02 03
Cause/genetic Signs/symptomp
Introduction basis s
04 05 06
complications/
pathophysiology Diagnosis comorbidities
TABLE OF CONTENTS
7 8 9
Quality of
Treatment life/prognosi History/
s Epidemiology
10
Advances
in research
Introduction
Cystic fibrosis is a rare genetic disorder characterized by:
CFTR is an anion
channel that • Over 2000 variations of
conducts Cl− & mutations with varying
HCO3 - across severity, though top 5
membranes make up >99%
• Evidence is mounting
that severity and
Located at locus
frequency are affected
q31.2 on
by modifier genes
chromosome 7
Pathophysiolog
y
CF is ca used by a muta tion in the CF
transmembrane conductance regulator
(CF T R ) g en e wh i ch l oca ted on th e
chromosome 7. The CFTR protein produced
by this gene regulates the movement of
chloride and sodium ions across epithelial
cell membranes.
As ion transport is defective, it will have
re s u l t i n a b u i l d u p o f t h i c k m u c u s
throughout the body, leading to respiratory
in su f fic ien cy, a lon g with ma n y oth er
systemic obstructions and abnormalities.
https://images.app.goo.gl/bTrcJ6idkBor5UbS8
Pathophysiology
https://images.app.goo.gl/CMGU9cCBtamPUjKG8
In cystic fibrosis, there is also an imbalance in the activity of another protein called the epithelial
sodium channel (ENaC). This channel is responsible for regulating the movement of sodium ions
in and out of cells. In cystic fibrosis, the defective CFTR protein leads to increased activity of
ENaC, resulting in increased absorption of sodium and water from the airway surfaces. This, in
turn, leads to the dehydration of the airway surfaces and the formation of thick, sticky mucus.
The imbalance in salt and water transport contributes to the respiratory symptoms and
complications seen in cystic fibrosis.
Signs & Symptoms
1-Salty-tasting skin.
2-Wheezing or shortness of breath.
3-Poor growth or poor weight gain.
4-Small, fleshy growths in nose called nasal polyps.
5-Frequent lung infections, both bacterial and fungal.
6-Persistent coughing with phlegm.
7-Frequent greasy,bulky stools or difficulty in bowel
movement.
8-Elevated risk of diabetes.
9- 97-99% of men are born with congenital absence of
vas deferens.
Signs & Symptoms
FIGURE 2.
Nasal polyps.
FIGURE 1.
Anterior colored chest radiograph
showing mucus in the lungs in a FIGURE 3.
patient with CF. Colored scan of an axial section
through a patient's lungs (blue)
showing mucus in the bronchi
(thick orange branching). The
heart (orange) is seen at upper
right, with a vertebra (white) at
lower center.
journals.lww.com/jaapa/fulltext/2017/05000/keep_them_breathing__cystic_fibrosis.4.aspx#:~:
text=CF%20is%20caused%20by%20a,ions%20across%20epithelial%20cell%20membranes.
Diagnosis
A sweat test to measure the amount of salt in sweat, which will be
abnormally high in someone with cystic fibrosis.
https:
//images.app.goo.gl/qzx1sg87W99KjGfd9
A genetic test where a sample of blood or saliva is checked for the faulty
gene that causes cystic fibrosis.
*********************************
Despite from previous two main tests also
• Newborn screening
• Genetic test
• Sinus X-RAYs
• Chest X-RAYs https:
• NPD //images.app.goo.gl/k81m6Jg7oU
• etc pdbURS6
CF comorbidities of diabetes
Gastroesophageal reflux
Vitamin D deficiency
And high-fat diets are recognized risk factors for digestive tract cancers.
https:
//images.app.goo.gl/jdzGG
Treatment and management
• There is no cure for cystic fibrosis, but various treatments can be
done to ease symptoms and improve quality of life
• Young adults with Cystic fibrosus also usually have a good quality of
life with most going to college and working jobs.
• Currently the average life span for people with Cystic fibrosis who live
to reach adulthood is approximately 44 years old
History of the disease
The incidence of CF in the USA and UK and Canada is estimated at 1000 . Throughout the European Union,
1 in every 2000 to 3000 infants are diagnosed with CF. In Latin and South America, the average incidence
is calculated at around 1 in every 8000 individuals. In Asia, Middle Eastern countries exhibit a higher
incidence than East Asia. In Jordan, researchers report an incidence of 1 in 2560, In Japan, the incidence
of CF is around 1 in every 350,000 births, while in India, incidence varies from 1 in 10,000 to 1 in 100,000
people.
While CF affects both male and female individuals equally, female patients with CF demonstrate a shorter
life expectancy than their male counterparts, typically due to an earlier onset of respiratory infections.
Due to the implementation of newborn screening, more than 75% of CF diagnoses in the United States
occur before a child reaches 2 years of age. Age at diagnosis impacts disease outcomes, with earlier
diagnoses resulting in improved survival rates.
Advances in research
Progress in cystic fibrosis research has led to many new therapies that can extend and enhance
the lives of those with CF. Physicians and scientists around the world are involved in a wide range
of research to increase understanding of the disease. Research by dedicated scientists and
clinicians includes basic science, clinical and real-world research:
1.Basic science or bench research happens in laboratories. It looks at CF from molecular, cellular
and tissue levels.
2.Clinical research takes findings from basic science and translates them into potential
treatments. These could include new ways to diagnose cystic fibrosis, new procedures and drugs
to treat the disease and other new tools to help physicians and patients.
3. Real-world research looks at situations of patients in the real world to examine human behavior
and how it relates to treatment approaches
RESOURCES
https://www.esiason.org/what-is-cf/? https://www.nationaljewish.org/conditions/cystic-fibrosis-cf/research
gad_source=1&gclid=CjwKCAiAxaCvBhBaEiwAvsLmWF0yrUKn_Hk
znJb4cvC7kwVvVHpgrBXGaRampTv1Xy- https://www.rarediseaseadvisor.com/disease-info-pages/cystic-fibrosis-
_BFAkQGjblxoCVjcQAvD_BwE epidemiology/#:~:text=Race,neonates+receiving+a+CF+diagnosis
https://www.nationaljewish.org/conditions/cystic-fibrosis-cf/history#:~:
https://www.nhs.uk/conditions/cystic-fibrosis/#:~: text=CF+First+Described,children+who+died+of+malnutrition
text=Diagnosing%20cystic%20fibrosis&text=a%20sweat%20test%20
%E2%80%93%20to%20measure,
Veit G, Avramescu RG, Chiang AN, Houck SA, Cai Z, Peters KW, Hong JS,
gene%20that%20causes%20cystic%20fibrosis
Pollard HB, Guggino WB, Balch WE, Skach WR, Cutting GR, Frizzell RA,
Sheppard DN, Cyr DM, Sorscher EJ, Brodsky JL, Lukacs GL. From CFTR
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10301499/#:~: biology toward combinatorial pharmacotherapy: expanded classification
text=Common%20CF%20comorbidities%20of%20diabetes, of cystic fibrosis mutations. Mol Biol Cell. 2016 Feb 1;27(3):424-33. doi:
factors%20for%20digestive%20tract%20cancers 10.1091/mbc.E14-04-0935. PMID: 26823392; PMCID: PMC4751594.
Reference 2:Elborn JS. Cystic fibrosis. Lancet. 2016 Nov
19;388(10059):2519-2531. doi: 10.1016/S0140-6736(16)00576-6.
Epub 2016 Apr 29. PMID: 27140670.
https://www.mayoclinic.org/diseases-conditions/cystic-
fibrosis/diagnosis-treatment/drc-20353706