Cystic Fibrosis

Cystic fibrosis is an autosomal recessive disease that mainly affects

the respiratory system, digestive system and reproductive system.
People, who inherit cystic fibrosis, will have two faulty genes for the
cystic fibrosis transmembrane regulatory channel protein (CFTR
channel protein).
Mucus is a substance that is made by tissues that line some organs
and body cavities, such as the lungs and nose. Normally mucus is
slippery and watery, which prevents the linings of those organs from
getting dry and/or infected (What is cystic fibrosis?, 26). However if
a person has cystic fibrosis then the mucus becomes thick and
sticky thereby preventing it from carrying out its normal functions
The CFTR channel proteins are in charge of the movement of
chloride ions in and out of the cell. The faulty CFTR channel protein
cannot effectively move chloride ions out of the cells; therefore they
build up in the cells. This results in sodium ions moving into the cells
because they are not inhibited by the channel proteins, as they
normally would be. All of this reduces the water potential of the
contents of the cell. Therefore, since the outside of the cell has a
higher water potential than the inside, water moves into the cell by
osmosis down the water potential gradient through the partially
permeable membrane. As water
moves into the cell, the mucus on
the outside of the linings of the cells
becomes more viscous and sticky
due to its loss of water.
Even though cystic fibrosis is a
recessive disease it is very prevalent
in European ancestry - in the UK 1
person in 25 carries a faulty allele
(Fullick, 2008). In America CF affects
more than 30,000 kids and young adults in the United States (Floyd
R. Livingston Jr., 2014). It is very common because there are many
mutations that can lead to a faulty CFTR gene.
One way in which the disease affects the respiratory system is that
the sticky, thick mucus blocks the airways of the lungs and reduces
airflow to alveoli. As well as this, it greatly reduces the surface area
of the alveoli, and so gas exchange becomes inefficient and lessens.
As a result the sufferer is usually out of breath, has less energy
(because not enough oxygen can be received by cells for
respiration) and the sufferer will have coughing fits to try and expel
the mucus.
Moreover, due to the thickness of the mucus the tiny hairs, cilia,
cant sweep the mucus out, so the mucus builds up in the lungs

thereby further reducing the area for gas exchange. Furthermore

since the mucus also has the job of trapping bacteria the lungs have
a chance of getting infected if the mucus cannot be swept out from
the lungs, by the cilia.
The mucus affects the
digestive system by blocking
the pancreatic duct. This
means that enzymes cannot
be secreted to the gut to
break down food, which
implies that the sufferer will
be lacking nutrients and
glucose needed for
respiration (the sufferer will
have less energy). A way the
mucus leads to the inability to absorb the food that gets digested is
that it forms a barrier between the intestine walls and the contents,
so the nutrients cannot pas into the blood. Also, the mucus clogs the
villi, which reduces the surface area for absorption and so overall
reduces absorption of nutrients.
All of this means that people who inherit cystic fibrosis will suffer
from malnutrition and it is hard for them to maintain their body
mass.
One very serious consequence of cystic fibrosis is that since the
digestive enzymes are blocked by the mucus and remain in the
pancreatic duct, they start to break down the pancreatic cells. This
is harmful because if the enzymes damage the insulin-producing
cells then the sufferer could get diabetes because they cant
effectively produce enough insulin to maintain their blood glucose
levels.
Lastly, cystic fibrosis usually leaves both men and women infertile.
In women, fertile eggs are produced but the mucus blocks the cervix
so that no sperm can reach the eggs. The oviducts are also blocked
and this further decreases the likelihood of fertilisation occurring. In
men, normally the tube that carries the sperm from the testis to the
semen is absent. However, if it is present, mucus blocks it so that
few/ no sperm leaves the testis.
There are unfortunately no cures for cystic fibrosis yet, but instead
of taking the risk of giving birth to a child with cystic fibrosis,
parents chose to screen for cystic fibrosis before the baby is born.
There are two options: prenatal screening and preimplantation
genetic diagnosis.
Amniocentesis is an example of prenatal screening where some
amniotic fluid is removed from around the fetus and the fetal cells
present in the fluid are tested to see if the faulty allele for the CFTR
channel protein is present. Chorionic villus sampling is another

example of prenatal testing where a small sample of embryonic

tissue is taken from the placenta at 8-10 weeks of pregnancy. The
fetal cells in the sample are then tested to see if the defective allele
for the CFTR gene is present. Preimplantation genetic screening is
screening an embryo. Harvested eggs from the mother are fertilised
in vitro and a cell from the embryo that forms from this is then
tested to see if the defective allele is present. Healthy embryos are
implanted back into the uterus to become babies, the remaining
embryo, which is not implanted is discarded.
One ethical issue about these genetic screening procedures is that it
could potentially lead to the parents aborting the child. In many
religions this is seen as murder since you are killing a potential life.
For preimplantation screening techniques, the affected embryos are
usually discarded and this can also be seen as ethically wrong
because you are not allowing that potential life to live. Another
problem with this method is that the embryo could be damaged, so
that the child may be defective when they are born.
Then there are problems of false negatives and false positives
because these tests cant detect all the mutations that cause cystic
fibrosis, so a family may be told that their child doesnt have cystic
fibrosis but in the end they do. This can cause problems in the future
because if the screening produces a false positive for cystic fibrosis
then the family could be aborting a perfectly healthy fetus. On the
other hand, if the test gives a false negative and the family
continues and the woman completes the pregnancy then this could
cause financial problems because the sufferer will have to be
treated, he/she may find it hard to get a future job and some
insurance companies may refuse to insure the person due to their
condition.
This brings me onto the next point of who has the right to know
whether the child has cystic fibrosis or not confidentiality of the
parents. If someone were to find out that the parents underwent
preimplantation genetic screening process, the parents may be
rejected by society because they allowed the embryo with the
defective genes to be destroyed when the healthy one was
implanted.
However, these screening can be a good thing because it allows the
parents to make a decision whether they want to carry on with the
pregnancy and allow their child to suffer with CF or abort. It could be
seen as immoral to allow a child to suffer with the disease when the
parents had the chance to end its suffering.
If the child is born with cystic fibrosis there are many implications
that are brought with it. A social implication may be that the child
may experience difficulty interacting with people due to long periods

of absence from school etc. The child may also be embarrassed of

their condition because they would be continuously coughing and
bringing up phlegm, which may also make it hard for the child to
make friends. This could potentially lead to emotional distress,
maybe even depression, because the child would be deprived of
social interaction and may develop dependency issues due to their
use of the many drugs that they are prescribed, so they may
become dependent on other things like alcohol (which they should
generally drink with caution) (Tafe, 2009).
To answer the question, I do not agree with the statement because
in the short term the cost may be high to pay for the various
treatments needed to support the child, but in the future they may
be healthy and be able to live a normal life, with minimal use of
drugs its cost effective in the long term. As well as this, I think
that if the child has cystic fibrosis and there are treatments
available, then they shouldnt be denied that treatment because
they have the right to live. The children did not chose to have cystic
fibrosis and this should be a reason for why society should try to
help them because without the treatments they will die and then
they really cannot contribute to any aspect of society. On the
contrary, if they lived and gained a stable, fairly healthy life in the
future then there is a possibility that they can help society in some
ways themselves.

Bibliography
What is cystic fibrosis? (26, 12 2013). Retrieved 03 16, 2015, from
nhlbi.nih.gov: http://www.nhlbi.nih.gov/health/health-topics/topics/cf
Fullick, A. (2008). Edexcel AS Biology. Pearson Education.
Floyd R. Livingston Jr., M. (2014, 04). Cystic Fibrosis. Retrieved 03
16, 2015, from kidshealth.org:
http://kidshealth.org/parent/medical/digestive/cf.html
Tafe, J. (2009, 09 03). Health and Medicine. Retrieved 03 17, 2015,
from slideshare.net: http://www.slideshare.net/jenny1tafe/cysticfibrosis-1945416