Cystic fibrosis: symptoms, causes, treatment, etc.

Definition

What is cystic fibrosis?

Cystic fibrosis or better known as cystic fibrosis is a congenital disorder that causes severe damage to the lungs, digestive system, and other organs in the baby's body.

This disease affects the cells that produce mucus, sweat and digestive juices. Mucus is a liquid that functions to lubricate and protect mucous membranes.

Normally the mucus in the body is fluid and slippery. However, in people with cystic fibrosis, the mucus is thicker and stickier, so it blocks various channels in the body, especially the respiratory and digestive tracts.

Generally, babies who have cystic fibrosis or cystic fibrosis often have difficulty breathing and develop lung infections because of mucus obstruction.

In addition, mucus can also interfere with the function of the pancreas because it prevents enzymes from breaking down food.

This condition then causes problems in the digestive system so that it is at risk of causing malnutrition in the baby.

People with cystic fibrosis need intensive care to improve their quality of life.

Through the development of increasingly sophisticated health technology, people with this condition are usually still able to carry out daily activities such as going to school and working.

How common is this condition?

Cystic fibrosis or cystic fibrosis is a condition that can affect people of all ages. However, this inherited genetic disease generally develops in Northern Europe.

Because cystic fibrosis is a life-threatening disease, babies who develop this condition tend to have a shorter life expectancy.

However, don't worry because you can reduce your little one's risk of developing this disease by finding out what risk factors you have. Consult with your doctor to find out more information.

Signs & symptoms

What are the signs and symptoms of cystic fibrosis?

The signs and symptoms of cystic fibrosis vary depending on the severity of the disease.

Even though it is a genetic or hereditary disease, the age at which cystic fibrosis symptoms appear can also vary from infancy, childhood, and even adulthood.

In fact, some people may not experience symptoms until adolescence or adulthood. Over time, the symptoms of cystic fibrosis can get better or worse.

One sign of cystic fibrosis or cystic fibrosis that is easily visible is the presence of a strong saltiness in the sweat and skin of your little one.

So, when you kiss your little one, you will feel a salty aroma or taste from the skin. For the rest, most of the other signs and symptoms of this disease affect the respiratory and digestive systems.

This is because the thick and sticky mucus is blocking the flow of air into and out of the baby's lungs.

Symptoms of cystic fibrosis of the respiratory system

Some of the signs and symptoms of respiratory-related cystic fibrosis are the following:

• A prolonged cough that produces thick mucus (phlegm)
• Wheezing in babies or a breath sound that is similar to a high pitched whistle like giggle
• Nasal congestion
• Shortness of breath or shortness of breath
• The child has sinusitis, pneumonia, and recurrent lung infections
• Nasal polyps or small flesh growing inside the nose

Symptoms of cystic fibrosis of the digestive system

Some of the signs and symptoms of digestive-related cystic fibrosis are the following:

• Baby feces smell foul and greasy
• Severe constipation
• The anus sticks out (rectal prolapse) due to frequent straining
• Weight loss even though the child is not having difficulty eating
• Disruption of the process of removing feces, especially in newborns
• Skin and sweat taste salty
• Experiencing swelling or distension in the baby's stomach

Cystic fibrosis or cystic fibrosis of the lungs can increase the risk of infections such as bronchitis and pneumonia.

This is because cystic fibrosis is the optimal condition for supporting the growth of disease-causing pathogens.

Meanwhile, cysic fibrosis that affects the pancreas can cause the baby to experience malnutrition and inhibit the baby's growth.

Besides affecting the lungs and pancreas, cystic fibrosis can also affect the liver and other glands of the body.

There may be some symptoms not listed above. Always consult a doctor if you suspect your little one is experiencing one or more of the symptoms that have been mentioned.

When should I see a doctor?

If you, your child, or someone else in the family has symptoms of cystic fibrosis, talk to your doctor about getting tested for the disease.

Cystic fibrosis or cystic fibrosis is a condition that requires regular follow-up from a doctor.

Seek medical care immediately if your child has difficulty breathing, changes in the color and amount of mucus, changes in baby's weight, and is severe constipation.

Everyone's body reacts differently so make sure not to delay to see a doctor to get the best solution for your condition and your little one.

Cause

What causes cystic fibrosis?

Described by the US National Library of Medicine, cystic fibrosis or cystic fibrosis is a disease caused due to abnormalities or defects in genes. transmembrane conductance regulator (CFTR).

This gene is responsible for making proteins that control the movement of salt and water in and out of your body's cells.

In people who have cystic fibrosis, the genes will make proteins that don't work properly. This causes thick, sticky mucus and salty sweat.

There are many different disorders or defects in the gene that cause cystic fibrosis. The determinant of the severity of the condition is the type of gene mutation involved.

Furthermore, the damaged or defective gene will be passed on from parent to child until finally the baby is born with cystic fibrosis.

However, to finally develop cystic fibrosis, a child must inherit one copy of the gene from each parent.

So, if your baby has only one copy of the gene, he or she will not develop cystic fibrosis. Even so, your little one could become a carrier and maybe pass it on to their child later.

Risk Factors

What increases the risk of developing cystic fibrosis?

Quoting from the Mayo Clinic page, heredity, aka family history and race, are the greatest opportunities for babies to experience cystic fibrosis or cystic fibrosis.

Family history is a risk factor for cystic fibrosis because it can reduce this disease.

If there are parents, grandparents, or close relatives who experience this condition, it is likely that it will also affect other family members.

As for race, cystic fibrosis can actually be experienced by all races. It's just that, cases of cystic fibrosis are generally the most common in white people of northern European descent.

Complications

Are there any possible complications from cystic fibrosis?

The complications of cystic fibrosis can affect the respiratory system, digestive system, and reproductive system.

The following are complications of cystic fibrosis in the respiratory system:

• Airway problems (bronchiectasis)
• Chronic infection
• Nasal polyps appear
• Coughing up blood
• Pneumothorax or air leaks into the space separating the lungs and chest wall
• Failure to breathe

The following are complications of cystic fibrosis in the digestive system:

• Malnutrition
• Diabetes
• Liver disease
• Bowel obstruction or intestinal blockage

The following are complications of cystic fibrosis in the reproductive system:

• Less fertile (infertility) in men
• Reducing female fertility

However, these complications usually occur in adulthood or when cystic fibrosis persists for a long time and the condition worsens.

Diagnosis & Treatment

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

What are the usual tests for cystic fibrosis?

The doctor usually performs a test to diagnose cystic fibrosis by examining the child physically, observing the child's symptoms, and performing several tests.

Diagnosis of cystic fibrosis for newborns

Screening for cystic fibrosis in newborns can be done with take a blood sample to assess whether levels of a chemical called immunoreactive trypsinogen (IRT) are higher than normal.

IRT chemicals are released by the pancreas in the digestive system. But sometimes, the levels of the chemical IRT in newborns tend to be high because they are born early (prematurely) or because the labor is quite heavy.

Therefore, other tests are needed to further confirm that your little one has cystic fibrosis.

Furthermore, doctors can do sweat test after the baby is two weeks old to look for cystic fibrosis.

The sweat test procedure is done by applying chemicals that produce sweat to the skin. Then the baby's sweat is collected to be further tested whether it tastes salty more than normal or not.

The last examination that can also help diagnose cystic fibrosis is genetic testing.

The function of genetic testing is to determine the presence of a specific defect in the gene that causes cystic fibrosis.

Genetic testing is usually used as an adjunct to assess the levels of the chemical IRT in the diagnosis of cystic fibrosis.

Cystic fibrosis diagnosis for children and adults

Meanwhile, older children and adults can also check for cystic fibrosis by means of genetic tests and sweat tests.

This examination is usually performed for children and adults who have symptoms in the form of inflammation of the pancreas, nasal polyps, chronic sinuses, bronchiectasis, and lung infections.

Another diagnosis of cystic fibrosis

Here are some other ways to diagnose cystic fibrosis:

• Sputum test. Taking mucus samples with the aim of knowing the presence of germs as well as determining the right type of antibiotic to give.
• X-rays or X-rays. The purpose of the x-ray examination is to see the possibility of swelling of the lungs due to airway obstruction.
• CT scan. The goal is to see the condition of organs in the body such as the liver and pancreas and to make it easier to assess problems in these organs due to cystic fibrosis.
• Pulmonary function tests. The goal is to determine whether the lungs are functioning properly.

What are the treatment options for cystic fibrosis?

So far there is no cure for cystic fibrosis. However, regular treatment can help relieve symptoms and reduce complications.

Treatment aims to prevent and control infection of the lungs, remove mucus from the lungs, and prevent intestinal obstruction.

That way, treatment is expected to also help provide adequate nutritional intake for children.

Here are some treatment options to relieve symptoms of cystic fibrosis:

• Take medications to help thin mucus and prevent lung congestion
• Antibiotics are also often given for infections
• Anti-inflammatory drugs to reduce swelling of the airways in the lungs
• Enzyme supplement to supply the missing pancreatic enzymes as well as to help their function
• Stool softeners to prevent constipation and intestinal obstruction

Sometimes, treatment for cystic fibrosis can also be done with chest therapy. This aims to remove the thick mucus that is clogged in the lungs.

This procedure can be done 1-4 times per day with your body lying down. Consult your doctor further to know clearly this step of therapy.

There are still various other treatments that can help improve cystic fibrosis in babies.

These various treatments include pulmonary rehabilitation, sinus surgery, oxygen therapy, use of tubes while eating, intestinal surgery, and so on.

However, this treatment is usually adjusted to the condition and severity of the little one's disease.

So, make sure you consult your doctor immediately so that your baby gets the best possible care.

Home Remedies

What are some lifestyle changes or home remedies that can be done to treat this condition?

Some of the lifestyle changes or home remedies that may relieve patients with cystic fibrosis or cystic fibrosis are:

• Avoid contact with people who have lung infections.
• Perform routine child immunizations every year, including the flu vaccine.
• Make sure your child is getting enough fluids.
• Keep your child away from smoke and dust as this can make symptoms worse.
• Get regular exercise.
• Get your little one used to washing hands diligently.
• Always follow your pediatrician's instructions and provide medication as recommended
• Routinely check the child to the doctor

Prevention

What can be done to prevent cystic fibrosis in babies?

Cystic fibrosis or cystic fibrosis is actually a condition that can't be prevented. However, if you, your partner, or family member have cystic fibrosis, try genetic testing before you have children.

Genetic testing will help determine your risk or chance of having a child with cystic fibrosis.

Meanwhile, for those of you who are already pregnant and then genetic tests show that your baby may be at risk for cystic fibrosis, the doctor can perform additional tests on the unborn baby.

Even so, genetic testing is not intended for everyone. So, try to discuss further with your doctor before deciding to do genetic testing.

This is because the genetic test can have its own psychological impact on you, your partner, and your family.

If you have any questions, consult your doctor for the best solution to your problem.