What Is Cystic Fibrosis?

What Is Cystic Fibrosis?

Hi, and welcome to another episode of
Demystifying Medicine. On today’s episode we will cover cystic fibrosis. We will
be discussing the basic biological principles of cystic fibrosis, the organs
affected, and the various treatment options for this disease. So what do you,
a panda, or a neighbour’s pet have in common? You’re all made up of cells. The
cells can be thought of as a subunit of life. Inside these cells are a set of
instructions called DNA. DNA is made up of the bases: adenine, guanine, cytosine,
and thymine. You can think of these bases as instructions that code for genes in
your body. For example, the DNA contains
instructions for traits such as hair type, eye colour, and height. When a
nucleotide base is added, removed, or substituted, it is known as mutation.
These mutations can change the DNA code, which may affect the traits that are
expressed in your body. Now that we know the fundamental genetic makeup of our
body, let’s move to the next big question. What is cystic fibrosis? Cystic fibrosis
is a disorder caused by mutation in the cystic fibrosis transmembrane
conductance regulatory gene, known as CFTR for short. This mutation occurs on
chromosome 7. This disease is an autosomal recessive disorder which means
that the disease is inherited when a child inherits a defective copy of the
gene from both parents who are carriers of the gene. A carrier is an individual has
a defective copy and a normal copy of a gene and is unaffected themselves. The
CFTR gene codes for the CFTR protein, which is an important chloride
channel. The purpose of the channel is to pump ions in and out of the cell. The
symptoms and associated complications of cystic fibrosis are caused by the
dysfunctional CFTR protein channel which is found throughout the gastrointestinal
tract. Affected individuals have elevated sweat electrolyte levels, pancreatic
insufficiencies and lung infections. These signs are observed in most
patients but not all since severity of the disease can range widely amongst
individuals. In Canada, 1 in 3,600 are born with this disease.
Studies have shown that cystic fibrosis is more frequent in European Caucasian
populations than in any other population around the world. In addition, in the mid
1900s, the median survival age of individuals with this disease was eight
years, but today the median survival age has drastically improved to thirty years,
mainly due to better understanding of the disease and improved clinical
approaches. Now that we know more about the disease itself let’s talk about what
organs are affected and the various treatment options available. Recent
studies have shown a higher understanding of the underlying causes
of cystic fibrosis at a genetic level. More than 1,500 genetic mutations have
been linked to the onset of this disease. However, the most relevant mutation found
in 66% of affected patients is the deletion of the
phenylalanine in position 508 on the CFTR gene. This inherited disease
mainly infects the lungs, pancreas, liver, intestine, and sinuses. The most prominent
organ affected are the lungs. Excess mucus caused infections and eventual
permanent lung damage due to trapped bacteria. Normal digestive functions are also
altered by this disease, as a mucous blocks digestive enzymes from reaching
the intestines. Therefore food, specifically fats and
proteins, are not digested properly in patients. Finally, inflammation and
infection of the sinuses is a common effect of this disease, as this disease
affects the epithelium found in the upper respiratory tract. With this advanced
knowledge of the causes of cystic fibrosis, a number of treatments have
been proposed with intent of these treatments being to prevent and control
infections in lungs by removing mucus and to prevent blockages in the
intestines. A number of treatments for this disease are available including
antibiotics for infections of the airways, chest physical therapy, and other
specific medications. Antibiotics are generally the primary
treatment for people with cystic fibrosis as they most likely will have a
lung infection. Based on the type of bacteria and the severity of the
patient’s condition, there are different types of antibiotics that are available.
Some of which include oral, inhaled, or intravenous antibiotics. A second type of
treatment is chest physical therapy which serves us a way to loosen and
remove mucus from the lungs. This should be done 3 to 4 times a day and it
involves repeatedly pounding one’s chest and back in order to dislodge the mucus.
As it might be physically demanding for some people there are devices such as
mechanical precursors or a positive expiratory pump mask which both serve
the purpose of clearing mucus from the airways.
Cystic fibrosis can also be treated by medications most notably a group called
bronchodilators which help to open the airways by relaxing the surrounding
muscles. Finally, as mentioned before, the pancreas and intestines are unable to
function officially because of this disease. Digestion of food becomes
difficult and eventually malnutrition becomes a cause of the disease.
Prevention of malnutrition has become a greater focal point in recent years as
it could help the patient fight a persisting lung infection. Oral
pancreatic enzymes are provided to help digest fats and proteins and supplements
of vitamin A, D, E, and K are provided to replenish the fat soluble vitamins that the
intestine can no longer absorb. By implementing these techniques we can hope to continue lessening the incidence of this disease. That’s all for today! Thanks for joining us on this episode of Demystifying Medicine!

49 Replies to “What Is Cystic Fibrosis?”

  1. If you want to learn more about Cystic Fibrosis, I am a CF patient who writes about other people with CF who are thriving! Click here for my most recent story:) https://www.theodysseyonline.com/cf-patient-teaches-other-cf-patients-to-rock-cf-through-nonprofit-organization

  2. I have cf and my doctor said I need a lung transplant soon my lungs are getting worse i just got out of the hospital I was there for a week I’m on home ivy antibiotics and my breathing test was at 35 when I got hospitalized and now there better I don’t want a lunge transplant I’m scared

    You only need to say 1 sentence to explain it. 1 FREAKING SENTENCE
    "Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time. "

  4. its weird how they said its frequent in Caucasian populations in Europe. probably as a result of inbreeding in royal families

  5. My little cousin Boston has this and he was just diagnosed with it like 3 weeks ago and I don't think I can see him as much anymore and he LOVES to wrestle and he is realy active but he can't do that anymore. The only think he has is boy scout witch apparently isint called that but it's like American smth but yeah. He can't even do much In that either. And we wer really close even tho he's like 6-7 and I'm abt to be 13 but we wer tight

  6. From what I know about nutrition. The person's with this disease must come away from prepackaged foods, eat grass fed & free range meats. And fresh organic produce. I discovered Africa has the best food's for nutrient value because they aren't dominated by Roundup or Monsato.

  7. Don’t get mad at my question, but can’t couples check if they are carriers and tell them what they are risking if they have kids?

  8. Thanks for this vedio. I have a nepew he has suffering from cystic fiborsis problem last 5 years. We are not getting regular treatment. Beause this is type of medical service us not available at Bangladesh. If we can go outsite of our country that some better. But financial budget is short. At this stage what could be best suggession for treatment.please suggest ua

  9. People who keep saying it's a disease, IT'S A DISORDER. I have it but mine isn't as severe as other cases. Btw here is some info^^

    If you have cystic fibrosis you usually weeze and your coughs sound like something out of Godzilla-

    If you try running fast it will cause you to be short of breath and cause you to breath heavily. But it lasts a few seconds. Well it depends, mine isn't as bad as others but I dont know about "others."

    Your skin is salty, when I was showering once I saw a sparkle on my arm and I licked it lol it was salt. Your skin is usually dry. Eating salty food is good for you. Like a lot of salt-

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