What is the Main Cause of Cystic Fibrosis?

What is the Main Cause of Cystic Fibrosis?

Cystic fibrosis is a genetic condition. The mutation of a specific gene, cystic fibrosis transmembrane conductance regulator (CFTR), causes cystic fibrosis. This gene instructs the creation of a protein, which functions as a channel in cell membranes for such cells that regulate sweat, mucus, and other secretions.

What is Cystic Fibrosis?

Cystic Fibrosis (CF) is an inherited genetic disorder which causes mucus to become sticky and thick, building up in the organs. This blocks and eventually disrupts the proper functioning of the organs. CF is often perceived as a lung disease because it affects your lungs and airway passages, making it hard to breathe and causing infections.

However, the term cystic fibrosis indicates its negative effect on your pancreas, which causes it to form cysts and scarring. The damage, along with a build-up of thick mucus, blocks ducts that release digestive enzymes, restricting the proper release of nutrients from your digestive tract. CF also affects your sinuses, liver, sex organs and intestines.

Normally, thin and watery-like mucus lines organs such as the lungs and nose. However, people suffering from CF have genetic mutations, leading to low levels of particular proteins and minerals that cause water to move into the mucus.   

What are the Types of Cystic Fibrosis?

There are two types of CF that one can inherit:

1. Classic Cystic Fibrosis: This is an autosomal recessive genetic disease. It restricts the regular mucus clearance from the lungs. Due to this build-up, there is an infestation of a bacterium, Staphylococcus aureus.   
2. Atypical Cystic Fibrosis: It is a milder form of CF which often affects older children or adults. This type of CF usually affects can involve multiple organs, with symptoms.

What Causes Cystic Fibrosis?

A variation in the CFTR gene leads to cystic fibrosis. CFTR is a protein that operates as an ion channel along the surface of a cell. Ion channels act as gates in a cell membrane, allowing only particular types of molecules to pass through. CFTR forms a gateway for chloride ions, a type of mineral with a negative electrical charge. It is a negatively charged mineral. Chloride moves out of the cell taking water with it which makes mucous thinner and slippery. In people with CF, gene mutations in CFTR prevent this from happening, therefore the mucus stays sticky and thick.

There are different categories of gene mutation in CFTR gene that ranges from classes (I to VI) that depend on the effect they have. Some of it not produce protein at all, some produce only small amounts of proteins, some produce proteins that don’t work properly. 
 

What Causes Cystic Fibrosis?

A variation in the CFTR gene leads to cystic fibrosis. CFTR is a protein that operates as an ion channel along the surface of a cell. Ion channels act as gates in a cell membrane, allowing only particular types of molecules to pass through. CFTR forms a gateway for chloride ions. It is a negatively charged mineral.

What are the Types of Cystic Fibrosis?

There are two types of CF that one can inherit:

1. Classic Cystic Fibrosis: This is an autosomal recessive genetic disease. It restricts the regular mucus clearance from the lungs. Due to this build-up, there is an infestation of a bacterium, Staphylococcus aureus.   
2. Atypical Cystic Fibrosis: It is a milder form of CF which often affects older children or adults. This type of CF usually affects can involve multiple organs, with symptoms that come and subside by themselves.
    

What are the Symptoms of Cystic Fibrosis?

Here is a list of symptoms to look out for:

• Slow growth
• Frequent lung function
• Frequent sinus infection
• Regular wheezing
• Having a nagging cough
• Difficulties in weight gain, irrespective of having a good appetite and calorie intake.
• Difficulties in breathing
• Oily or loose poop
• Having abnormal electrolyte levels can cause dehydration and heatstroke.
• Diarrhoea
• Pancreatitis
   

Can Adults get Cystic Fibrosis?

You are born with the mutation in the gene that causes cystic fibrosis. Some people may go undiagnosed until later in life, even as adults due to mild symptoms, or symptoms comes and go.

What are the Possible Complications of Cystic Fibrosis?

If you are suffering from CF, here are some complications that you might experience:

• Infection: Constant trapping of bacteria due to the thick mucus lining in your lungs and airways makes you prone to infections.
• Diabetes: If CF starts to infect and damage your pancreas, the chances of getting CF-related diabetes increase.
• Malnutrition: When thick mucus lines your digestive tract, it restricts the release of pancreatic enzymes that help in digestion, exposing you to the risk of malnutrition.  
• Osteopenia and Osteoporosis: They are bone conditions in which the bones become too thin due to the digestive tract's inability to absorb nutrients.
• Complications During Pregnancy: The most common type of complication that you might face due to CF is preterm birth during pregnancy. 
   

How is Cystic Fibrosis Diagnosed?

Healthcare providers often test for cystic fibrosis during a new-born screening. Health experts performs this test with a few drops of blood from your baby’s heel. In this blood sample, a lab looks for immunoreactive trysinogen (IRT), a chemical made in your pancreas. However, people with cystic fibrosis have higher level of IRT in their blood. Babies generally tested for IRT shortly after birth or after few weeks of birth.

But in few cases such as preterm delivery can increase IRT levels. Therefore, a positive IRT level does not mean that your baby has cystic fibrosis. In case your baby has higher levels of IRT than expected, your doctor will ask some additional tests to make a final diagnosis.

You must take immediate action when the symptoms of cystic fibrosis are evident. Taking precautionary medication and consulting a medical consultant is most important.

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