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Unit 12 - Infectious and non-infectious diseases Learning aim A
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Unit 12A of BTEC Level 3 Applied Science. This assignment achieved distinction.
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Unit 12 – Assignment AThe cystic fibrosis recessive allele is a lower-case c while the healthy variant of the allele is dominant and
shown with a capital C. The table shows how two heterozygous parents may carry the disease and pass
it to their offspring. This shows a 25% chance of a child inheriting cystic fibrosis.
Cystic fibrosis is an inherited condition which the lungs and digestive system become clogged due to the
thick, sticky mucus. This can cause breathing and digestion problems. A thin layer of mucus found in the
lungs serves to trap the dust and bacteria we breathe in. This mucus is then transported by tiny hair-like
structures known as cilia up the airways and into the throat, where it can be coughed out or swallowed.
The pulmonary mucus in CF patients is thicker and stickier than typical. As a result, it is more challenging
to clean up and bacteria can become stuck more easily, leading to an infection. The lining of the airways
swells and produces more sticky mucus when it is infected. Lung damage may result from recurrent
infections. The cells in the respiratory system, particularly the lungs, absorb an excessive amount of
sodium and water due to the abnormal electrolyte transport system in CF. The normally thin secretions
in the lungs become extremely thick and difficult to move as a result. Regular respiratory infections are
made more likely by these thick secretions. The inability of the body to efficiently transport salt and
water into and out of cells is the cause of CF.
The cystic fibrosis transmembrane conductance regulator (CFTR) protein is either improperly or never
made, which results in cystic fibrosis. The ion and water balance on a variety of body surfaces, including
the surface of the lung, is supported by the cystic fibrosis transmembrane conductance regulator (CFTR)
protein. Chloride becomes entrapped in cells when the protein is malfunctioning. Water cannot hydrate
the surface of the cell if the chloride is not moving properly. Many of the symptoms of cystic fibrosis are
brought on by this, which causes the mucus that covers the cells to become thick and sticky. The
,following issues with the CFTR protein may result from CFTR gene mutations in affected individuals: It
doesn't function well. Insufficient amounts are produced. It is not produced in any way. Water is no
longer drawn to the area outside the cell when any of these issues take place because the chloride ions
are trapped inside the cell. When there is less water outside of the cells, the mucus in the airways
becomes dehydrated and thickens, flattening the cilia as a result. When heavy with thick, sticky mucus,
the cilia cannot sweep effectively. Breathing becomes challenging because mucus becomes lodged in the
airways due to improper cilia movement. Additionally, because the mucus blocks the airway, germs that
get caught inside can grow and infect people. Some of the most typical issues that people with CF deal
with include thick pulmonary mucus and recurrent airway infections. Infertility may also result from
damage to other body parts, such as the reproductive system.
The offspring of two CF carriers may also carry the disease. It is possible for one, some, or all of the four
children in a family with four children to be CF-positive. No matter which of the other siblings is a carrier
or has CF, every baby has an equal chance of inheriting CFTR mutations from both parents. Children
born to a CF carrier and a person with CF will either have CF or be CF carriers.
The CFTR gene mutation can be passed down to offspring by CF carriers. Chances are that: whenever
two CF carriers conceive a child together.
One in four children will have CF, or 25%.
50% (1 in 2) of children will be carriers but not have CF.
25% (1 in 4) of the time, the child will not carry the gene and not have CF.
Children of CF patients can inherit CFTR gene mutations from their parents. The likelihood is: if a person
with CF has a child with a CF carrier.
1 in 2 kids will have CF, which is 50%.
50 percent (1 in 2) of children will be carriers but not have CF.
, Emphysema is a lung condition that causes a shortness of breath. Symptoms include breathing difficulty,
a persistent cough, shortness of breath, and a need to breathe more quickly to make up for tidal volume
loss. Emphysema is normally caused by smoking which causes damage to the alveoli. Phagocytes are
attracted to an area of inflammation. This means the elastin is permanently stretched as a result of an
enzyme that the phagocytes' elastase breaks down. This causes a lower concentration gradient result
from the alveoli's inability to recoil to force all the air out. Abnormally large air spaces are caused by the
destruction of the alveoli walls or membranes. This means the alveoli will lose its surface area, which will
decrease the surface area that is available for gas exchange. Less elastic lung tissue means a smaller
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