Cystic Fibrosis
Cystic fibrosis is a type of genetic disease that causes mucus in the body to become thick and sticky, thus blocking the channels in the body.
As a result of this blockage, several organs, especially the lungs and digestive system, experience disorders, even damage.
Cystic Fibrosis Symptoms
This condition may or may not cause symptoms.
In the case of symptoms that appear, this condition can appear at birth or after adulthood. The rest, do not experience any symptoms until adulthood.
When symptoms do appear, they can vary from person to person.
This depends on the blocked duct and its severity.
So, here are the symptoms of cystic fibrosis based on its location:
1. Symptoms in the respiratory tract
Cystic fibrosis causes the production of thick, sticky mucus in the respiratory tract.
As a result, this mucus becomes clogged and triggers the following symptoms:
- Stuffy or blocked nose.
- Long-term cough with phlegm.
- Easily tired during activities.
- Experiencing wheezing.
- Out of breath.
- Respiratory tract infection.
The above conditions can worsen suddenly within a period of several days to weeks.
In the medical world, this condition is known as acute exacerbation.
2. Symptoms in the digestive tract
Not only in the respiratory tract, mucus can also block the digestive tract, specifically in the part that carries digestive enzymes from the pancreas to the small intestine.
As a result, the body cannot absorb nutrients from food properly. As a result, this condition triggers:
- Oily and smelly stools.
- Significant weight loss.
- Stunted growth due to malnutrition.
- No first bowel movement in a newborn. This condition is called meconium ileus.
- Prolonged diarrhea or constipation.
- Experiencing jaundice which is characterized by yellowish skin.
- Sweat is saltier than usual.
Causes of Cystic Fibrosis
Cystic fibrosis is caused by a defect or mutation in a gene, namely the cystic fibrosis transmembrane conductance regulator gene, which changes the protein that regulates the movement of salt in and out of cells.
As a result, mucus becomes thick and sticky in the respiratory, digestive, and reproductive systems, and salt in sweat increases.
Children need to inherit one copy of the gene from each parent to have the disease.
If children inherit only one copy, they will not develop cystic fibrosis.
However, they will be carriers and can pass the gene on to their own children.
Cystic Fibrosis Risk Factors
The following are risk factors that make someone susceptible to cystic fibrosis:
- Family history. Because this disease is an inherited disorder, cystic fibrosis can be inherited if a parent, grandparent, or close relative has a history of cystic fibrosis.
- Race. Although the disease can occur in all races, cystic fibrosis is most common in white people of Northern European descent.
Diagnosis of Cystic Fibrosis
To detect the presence of cystic fibrosis, examinations need to be carried out from birth so that treatment can be carried out as soon as possible.
One type of examination that is commonly performed is a DNA examination.
In this method, damage to the gene that causes cystic fibrosis can be detected.
Before a DNA test is performed, the doctor will usually recommend a blood test first to check for any indications of cystic fibrosis when the baby is 8 days old.
Next, if deemed necessary, genetic or DNA testing can be performed. This examination is done by taking DNA samples from the baby’s saliva or blood.
Another type of test is a sweat sample test. Sweat sample testing can usually be done when the baby is at least 2 weeks old.
The purpose of this examination is to detect cystic fibrosis by measuring the salt levels in sweat.
Generally, the salt levels of people with this disease are higher than normal.
The next test to determine cystic fibrosis is the nasal potential difference test.
This examination is done by attaching electrodes to the nose to see the smooth flow of salt in the nasal passages.
In addition, there is an organ function examination to measure the health level of the liver and pancreas.
This method can also be used to detect symptoms of diabetes and is usually carried out periodically after the patient is ten years old.
If the examination results confirm that a child has cystic fibrosis, further examinations will be carried out, such as:
- An X-ray scan to get an image of the chest, including the heart and lungs.
- CT scan to see if there are serious disorders in the pancreas, lungs, or other organs.
- Liver function tests to detect complications of cystic fibrosis.
- Throat or sputum test or examination to find out which bacteria are causing the infection.
- Pulmonary function tests and analysis of oxygen and carbon dioxide levels in the blood to assess lung performance.
- Stool analysis to see the body’s ability to digest and absorb nutrients in food.
Cystic Fibrosis Treatment
The main focus of cystic fibrosis treatment is to thin the thick mucus in the lungs so that it can be easily expelled. This also helps prevent lung infections.
If an infection has occurred, the doctor will also focus on treating it. Other treatments include preventing intestinal blockage and ensuring the patient gets enough nutrition.
To overcome the above conditions, here are the actions that doctors can take:
1. Medicines
Medications that doctors can prescribe include:
- Phlegm-thinning drugs to relieve the respiratory tract. Examples of drugs include inhaled acetylcysteine or carbocisteine.
- Prescription medications to relax the muscles in the airways to keep them open.
- Anti-inflammatory drugs to reduce swelling in the respiratory tract
- Antibiotic drugs to treat bacterial infections that cause cystic fibrosis.
- Providing digestive enzyme supplements so that digestion can absorb nutrients properly.
- Giving vitamin E supplements for vitamin E deficiency which is often experienced by cystic fibrosis sufferers.
2. Physiotherapy and intensive lung care
This long-term treatment aims to thin the phlegm so that it is easier to expel. The hope is that lung function can improve so that patients can breathe more easily.
Physiotherapy can be done by patting the chest or back, applying good breathing techniques, exercising regularly, providing education and counseling with nutritionists and psychologists.
3. Other medical actions
In addition to the above actions, doctors can also perform the following methods to prevent complications due to cystic fibrosis:
- Administration of oxygen to prevent hypertension in the lungs.
- Suctioning and cleaning mucus that blocks the respiratory tract with bronchoscopy and lavage.
- Nasal polyp removal surgery to treat nasal blockage.
- Installation of a feeding tube so that the patient gets adequate nutritional intake.
- Bowel surgery for patients with intussusception.
- Lung transplantation in cases of patients experiencing severe respiratory distress.
Complications of Cystic Fibrosis
If not treated promptly, cystic fibrosis can cause the following conditions:
1. Respiratory complications
- Chronic sinusitis, bronchitis and pneumonia.
- Thickening of the respiratory tract making it difficult to expel phlegm or breathe (bronchiectasis).
- Inflammation and swelling of the nasal passages (nasal polyps).
- A buildup of air in the cavity that separates the lungs and chest wall (pleural cavity). This condition is called pneumothorax.
- Thinning of the walls of the respiratory tract, causing coughing up blood.
- Respiratory failure to the point of stopping breathing in very severe cases.
2. Digestive complications
- Malnutrition occurs when the body is unable to absorb protein, fat, or vitamins properly.
- Having diabetes due to poor blood sugar regulation. This condition is prone to targeting ages 30 and above.
- Blockage of the bile duct, resulting in the formation of gallstones and disruption of liver function.
- Blockage in the intestine (obstruction)
3. Other complications
- Osteoporosis or bone loss.
- Fertility problems leading to infertility.
- Urinary incontinence or difficulty holding urine.
- Electrolyte disturbances.
Cystic Fibrosis Prevention
If you or your partner have a close relative with cystic fibrosis, you may both consider having genetic testing before having children.
Tests done in a laboratory on a blood sample can help determine your risk of having a child with cystic fibrosis.
However, if you are already pregnant and genetic testing shows that your baby is at risk for cystic fibrosis, your doctor may perform additional tests on your developing baby.
