Cystic fibrosis or cystic fibrosis is a disease descendants which causes the mucus in the body to become thick and sticky. Cystic fibrosisnot a disease infectious, but instead the sufferermore prone to contracting an infection when close to or in contact with an infected person.
Under normal circumstances, mucus which acts as a lubricant in the body is fluid and slippery. In people with cystic fibrosis, there are abnormalities in the genes that regulate the flow of fluids and salts in cells.
This gene abnormality causes mucus to become sticky and block a number of channels in the body. The respiratory tract is one of them.
Symptoms of Cystic Fibrosis
Symptoms of cystic fibrosis can appear after a person is born or only appear when growing up. There are even those who do not experience any symptoms until adulthood.
The symptoms experienced by each patient are different, depending on the blocked organ tract and its severity.
Symptoms of cystic fibrosis in the respiratory tract
Thick and sticky mucus can clog the airways, causing symptoms of cystic fibrosis which include:
- Nasal congestion
- Prolonged cough with phlegm
- Get tired quickly when you are active
- Wheezing (wheezing)
- Hard to breathe
- Recurrent respiratory infections
Symptoms in the respiratory tract can worsen suddenly over a few days or weeks. This condition is called an acute exacerbation of cystic fibrosis.
Symptoms of cystic fibrosis in the digestive tract
Due to mucus that clogs the channel that carries digestive enzymes from the pancreas to the small intestine, the patient's body cannot absorb nutrients from the food consumed. This causes symptoms such as:
- Greasy and very smelly stools
- Stunted growth or weight loss
- Not defecating on the first day after the baby is born
- Diarrhea or severe constipation
- Skin color becomes yellowish (jaundice)
A person with cystic fibrosis also has sweat that is saltier than normal sweat. This symptom is generally recognized by parents who kiss their child's forehead.
When hcurrent ke doctor
One needs to consult a doctor if one has symptoms of cystic fibrosis. Cystic fibrosis can occur even from the first days of a baby's life. Immediately consult a pediatrician if the baby does not defecate in the first 24 hours of life.
Adhere to your child's immunization schedule. At the time of immunization, the pediatrician will also conduct a thorough health examination of your child. This is important to detect early if there are abnormalities in children.
Cystic fibrosis is a disease that runs in families. If you have a family member with cystic fibrosis, you should talk to your doctor about the possibility that you or your child may have cystic fibrosis.
For people with cystic fibrosis themselves, make sure to always have regular health checks with a doctor so that the progress of the disease is always monitored. Patients also need to be alert and immediately go to the hospital's emergency department (IGD) if they experience shortness of breath.
Causes of Cystic Fibrosis
Cystic fibrosis is caused by changes in genes that regulate the distribution of salt in the human body. Genetic changes or mutations will make the salt levels in sweat increase. This condition affects the mucus in the respiratory, digestive, and reproductive systems to become thick and sticky.
Gene mutations in patients with cystic fibrosis are inherited from both parents. If a child receives this gene mutation from only one of his parents, then he only becomes carrier for cystic fibrosis. A carrier do not have cystic fibrosis, but can pass the disorder on to their offspring.
Diagnosis of Cystic Fibrosis
The test to diagnose cystic fibrosis is a genetic test (CFTR gene). Genetic testing is necessary in the following conditions:
- Babies born to parents who have or carry the cystic fibrosis gene. Genetic testing through the baby's blood will be carried out when the baby is born or when the baby is 2 weeks old.
- Children and adults with chronic sinusitis, nasal polyps, bronchiectasis, recurrent lung infections and pancreatitis, and infertility.
- Couples who suffer or are carriers of cystic fibrosis. This genetic examination needs to be done when the husband and wife want to have children to see how much risk the child has for cystic fibrosis.
In addition to gene testing, doctors can also perform blood and sweat tests, to assess high IRT protein in the blood and high salt levels in the sweat of people with cystic fibrosis.
The doctor will also test the function of the pancreas and liver, as well as examine the respiratory tract with X-rays, check phlegm, and test lung function to see if there are any disturbances in the respiratory tract. These disorders will arise in patients with cystic fibrosis disease.
Cystic Fibrosis Treatment
Treatment for cystic fibrosis is done to thin the mucus in the lungs so that it is easy to expel, prevent lung infections or treat them when they occur, prevent intestinal blockage, and maintain adequate nutrition for the patient.
Some of the types of treatment that the doctor will give are:
Drugs
Doctors can give some of the drugs below to treat cystic fibrosis:
- Sputum thinning drugs, to make it easier to remove phlegm in the respiratory tract.
- Breathing lozenges, to relax the muscles in the respiratory tract, thereby helping the airways to remain open.
- Anti-inflammatory drugs, to reduce swelling of the respiratory tract.
- Antibiotics, to treat bacterial infections in the respiratory tract.
- Digestive enzyme supplements, to help the digestive tract absorb nutrients better.
Physiotherapy dthere is and pulmonary rehabilitation
This is a long-term program to thin phlegm to make it easier to expel and improve lung function. The physiotherapy program that will be carried out includes tapping on the chest or back, good breathing techniques, exercise, education about disease, as well as nutritional and psychological counseling.
Operations and procedures medical otherhis
Doctors may also perform the following procedures to treat cystic fibrosis and its complications:
- Oxygen supplementation, to prevent hypertension in the lungs.
- bronchoscopy and lavage, to suck up and clear the mucus that covers the respiratory tract.
- Surgical removal of nasal polyps, to remove nasal obstruction that interferes with the patient's breathing.
- Installation of feeding tubes, to provide adequate nutritional intake to the patient.
- Bowel surgery, especially if the patient with cystic fibrosis also has intussusception.
- Lung transplant, to treat severe respiratory disorders.
The above treatment is used to relieve the sufferer's symptoms. However, there is no specific treatment that can treat cystic fibrosis.
Complications Cystic Fibrosis
There are several complications that can be caused by cystic fibrosis. These complications can affect various systems and organs.
Respiratory system complications
Complications that can occur in the respiratory system include:
- Chronic infections, such as sinusitis, bronchitis, and pneumonia.
- Bronchiectasis, which is thickening of the respiratory tract which causes the patient to have difficulty breathing and produce phlegm.
- Nasal polyps are formed from inflamed and swollen parts of the nose.
- Pneumothorax, which is the accumulation of air in the pleural cavity, the cavity that separates the lungs and chest wall.
- Thinning of the walls of the respiratory tract to cause coughing up blood or hemoptysis.
Cystic fibrosis disease that continues to worsen can also make sufferers experience respiratory failure until they stop breathing.
Digestive system complications
Complications that can occur in the digestive system include:
- Lack of nutrients due to mucus makes the body unable to absorb protein, fat, or vitamins properly.
- Diabetes or diabetes. About a third of people with cystic fibrosis are at risk of developing diabetes by the age of 30.
- Blockage of the bile duct. This can lead to gallstones and impaired liver function.
- Intestinal obstruction.
Other complications that can be caused by cystic fibrosis are infertility, osteoporosis, urinary incontinence, and electrolyte disturbances.
Prevention of Cystic Fibrosis
Cystic fibrosis cannot be prevented. However, married couples who suffer from cystic fibrosis or have relatives who suffer from the disease need to undergo genetic testing. This test aims to check how much the offspring are at risk of developing cystic fibrosis.
At the time of genetic testing, the doctor will take a sample of blood or saliva. This genetic test can also be done when the mother is pregnant and is concerned about the risk of cystic fibrosis in the fetus she is carrying.