INTRODUCTION will not have a CF. CF may


An inherited disease which causes
respiratory infections and pancreatic enzyme insufficiency. It affects the
production of mucus causes the mucus to become sticky and thick resulting in
airway blockage. Sweat glands are also affected, leading to a higher
concentration of salt. This inherited genetic disease is known as Cystic
Fibrosis. “…is the most common life-shortening genetic disease in the
Caucasian population, affecting approximately 75,000 individuals
worldwide”(Farrell,2008). DNA is what
makes up the human structure, therefore any defects can cause conflicts. Cystic
fibrosis is caused by mutations in a gene on chromosome 7 encoding the protein
subsequently termed the CFTR gene. Chromosome
7 has a defect in people living with cystic fibrosis. Cystic
fibrosis is a serious, hereditary disease.

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Cystic Fibrosis is an autosomal
recessive disorder caused by mutations in the cystic ?brosis transmembrane
conductance regulator gene (CFTR). CFTR gene is the responsible in making the
cystic fibrosis transmembrane conduyance regulator protein. It functions as a
channel across the membrane that produces mucus, sweat, saliva, tears, and
digestive enzymes. It is the protien that conducts chloride and thiocyanate
ions across epithelial cell membranes. The mutation will link to Cystic
fibrosis, giving rise to respiratory infections, pancreatic insufficiency, poor
growth, infertility and diabetes.

CF is a genetic inherited disease.
In order to be inherit, it requires 2 copies of of the defective CF gene from
both of the parents. The parents should both carriers of the defective gene,
one copy from mother and one copy from father. There are chances that a child
will and will not inherit the disease; 25% chance that a child will have a CF;
50-50 chance that a child will be a carrier but will not have CF; 25% the child
will not be a carrier and will not have a CF.

CF may cause different symptoms in
each person affected depending on what is happening with his/her mucus
producing cells. Many organs systems are affected including lungs, pancreas,
sweat glands, bones, brains, nose and reproductive organs.

Lungs and the respiratory system is
the primarily affected of CF which causes viscous mucus inside and traps the
bacteria. It infects and causes severe damage in the lungs. Bronchiectasis is
common due to long lasting-airway inflammation (Vankeerberghen 2002). The
nose is also affected resulting to nasal polyps. Nasal polyps are soft
swellings that grow in the nose or sinuses. People with nasal polyps may
complain of congestion, sinus pain, a runny nose or a loss of their sense of
smell. Many people with CF suffer
with nasal polyps. This is thought to be due to the infection that CF can

pancreas creates enzymes, important chemicals that break down fats, proteins,
and carbohydrates in your food. This is can make it hard for the person to absorb nutrients from food. The small
tubes are blocked with mucus causing the failure of transporting the enzymes
out of the pancreas. Then
the enzymes build up in the pancreas instead of reaching the digestive
system, causing the pancreas to become inflamed. It is advised to take a food supplement in
helping to digest the food they eat. This is what they called pancreatic
insufficiency.(A.R. Smyth et
al. 2014) The pancreas also makes insulin, a hormone that regulates the
amount of sugar in your blood. The
build up of enzymes also means that the pancreas does not produce insulin
efficiently, this may result in diabetes.(Vankeerberghen 2002)

CF can cause a person to become
easily dehydrated because of the problem in the transport of salt across cell
membranes. This result in a higher concentration of salt in sweat
compared with those who do not have the condition. Unusually, they have salty skin.

Cystic fibrosis
can affect female fertility, for a couple of reasons.

The skeletal system is also
affected, they may have weaker bones. This is because their bones contain lower
level of minerals.

Reproductive organs of male and
females. In males, CF can cause infertility and cant bear a child this because
of the absence of vas deferens. Females may experience irregular periods and
will have more difficulty getting pregnant than other women. Females
with CF may also have thicker vaginal mucus, which can make it harder for the
sperm to reach the egg.(Vankeerberghen 2002)


First signs and symptoms are salty
sweat; many parents notice salty taste when they kiss their child. Poor growth
and weight gain (failure to thrive). Constant coughing and wheezing. Thick or
mucus or phlegm. Greasy, smelly tools that are bulky and pale colored.

Diagnosing CF before a child is
born, or by newborn screening, allows earlier referral to a CF center. The
genetic test will show whether a newborn has a defective CFTR genes. The result
will show whether a newborn pancreas is working properly. If the pancreas does
not work properly this leads to early treatment with pancreatic enzymes before
symptoms of abnormal absorption or poor growth occur.

One of the early symptoms is the
saltiness of the sweat of the baby. Most of the parents notice that when they
kiss their babies its sweat is salty and call the attention of the doctor.  A doctor will confirm the diagnosis with a
sweat test. This test is one of the useful and good indicator for diagnosing a
CF. Sweat test uses an electrode to provide mild electrical current. The sweat
is collected and then analyzed. High salt levels confirm a diagnosis of CF.


            Screening for CF is part of the
national newborn blood spot screening program. The sweat test is performed
on babies suspected of having CF, as part of the follow up to the blood spot
screening process. This test is safe and painless, and may also be used to help
make, or exclude, a diagnosis of CF where there is a family history or a
possibility of the condition.

Therapies like digestion enzyme
supplements that circumvent the malfunctioning of the pancreas, antibiotics to
treat lung infections and to solubilize the mucus in the lung, are symptomatic
treatments for CF. (Vankeerberghen et al) Most CF treatments for lung disease
have been tested primarily in patients aged five and older. These treatments
include physical methods to clear thick secretions from the chest, the use of
hand-held devices that cause an oscillation in the airways, and vests that
provide external oscillations to the chest wall. Maintenance medications
include those that thin sticky airway secretions inhaled antibiotics and
anti-inflammatory drugs.

Carrier testing may prevent the
widespread of CF. People known as carriers have one normal CFTR gene and one
defective CFTR gene. CF carriers usually live a normal life. However, they can
pass down the defective CFTR gene to their children. Through tracking down CF
family history or a partners CF family history, it may prevent CF to spread
among future generations.



Cystic fibrosis is a non-gender biased disease that
affects the lungs and digestive system.  It
causes the mucus to build up and blocks the respiratory system and pancreas. It
produces viscous mucus which clogs in the airways. It is a very dangerous
genetic disease. These thick mucus also obstruct the pancreas, preventing
digestive enzymes from reaching the intestines to help break down and absorb
food. The disease can be fatal without proper treatment.















Brice, P., Jarrett, J., &
Mugford, M. (2007). Genetic screening for cystic fibrosis: An overview of the
science and the economics. Journal of Cystic Fibrosis Retrieved from:
24 January 2018


Cantin, A. M., Hartl, D.,
Konstan, M. W., & Chmiel, J. F. (2015). Inflammation in cystic fibrosis
lung disease: Pathogenesis and therapy. Journal of Cystic Fibrosis Retrieved from:
24 January 2018


VanDevanter et al. / Journal of Cystic Fibrosis 15 (2016) 147–157 (2016) Cystic
fibrosis in young children: a review of disease manifestation,
progression,  and response to early
treatment Reatrieved from: https://­www.journals.elsevier­.com/­journal-of-cystic-fib­rosis/­most-downloaded-artic­les 22 January 2018


 Fajac, I., & De Boeck, K., New horizons
for cystic ?brosis treatment, Pharmacology & Therapeutics (2016), http:// Retrieved: 22 January 2018


Farrell, P. M. (2008). The
prevalence of cystic fibrosis in the European Union.Journal of Cystic Fibrosis, Retrieved from:
24 January 2018


A.R., Bell, C.S., Bojcin, S., Bryon, M., Duff, A., Flume, P., Kashirskaya, N.,
Ratjen, F., Schwarzenberg, S.J., Gudelus, I.S., Southern, K.W., Taccetti, G.,
Ullrich, G., Wolfe, S., A.R. Smyth et al. / Journal of Cystic Fibrosis 13
(2014) S23–S42     Retrieved from:
 22 January 2018


Vandevanter, D. R., Kahle, J.
S., O’Sullivan, A. K., Sikirica, S., & Hodgkins, P. S. (2016). Cystic
fibrosis in young children: A review of disease manifestation, progression, and
response to early treatment. Journal of Cystic Fibrosis Retrieved from:
24 January 2018


A., Cuppens H., Cassiman J.J. (2001, November 16) The cystic fibrosis
transmembrane conductance regulator: an intriguing protein with pleiotropic
functions Retreived from:
 22 January 2018


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