A Cystic Fibrosis Report
This is a formal report on cystic fibrosis which I created when researching on cystic fibrosis.
What is Cystic Fibrosis?
It is a genetic mutation that stop production of the special cystic proteins, causing mucus to clog up the lungs and stop the transmission of oxygen. Although is affects other organs, it mostly affects the gut and the lungs.
Symptoms
The symptoms of CF include diarrhea, smelly stool, pneumonia, chronic coughing and results in salty skin. It may also cause chest pains, wheezing cough and extreme pain due to the blocking of the guts. It also leads to diabetes, fertility problems and an enlarged liver.
Who does it affect the most commonly?
The most registered community is the Caucasians in the US(1 out 3300). This is much rarer in African Americans(1 in 15000) and least affects Asians(1 in 32000).
What is the cause?
CF is a genetically recessive disorder, which means a person needs two copies of the mutated genes.
CF is caused by a single mutated gene in chromosome 7. This gene contains instruction for building the protein cystic fibrosis trans membrane conductance regulator or CFTR. This protein controls the passage of chloride ions in and out of cells. When the gene is mutated, the protein stops working or is missing.
When three letters(out of the 6100 gene pool) of the gene’s code disappear, the instructions for putting amino acid phenylalanine(TCC) is missing, thus the mutation’s name of delta-F508.
When is it most commonly diagnosed?
CF is most commonly diagnosed on underweight babies, this is because the production of enzymes in the pancreas pass into the gut. Thus the fat in food is not properly digested. Thus the child does not benefit from the energy from fat, and their waste is smelly as it contains excess fat.
How is it most commonly diagnosed?
CF can be tested in a baby during pregnancy, using chronic villus sampling, which needs a biopsy using a sample tissue. Neonatal screening in newborns is recently being used, when a blood sample is taken from a baby to test.
Treatments
People with CF often need chest therapy, which is a vigorous message to loosen the sticky mucus. Vaccinations of the MMR and DTP are also important as they are more prone to flu and pneumococcus.
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