Cystic Fibrosis


Cystic Fibrosis (Cystic Fibrosis) It is a genetic disease caused by a gene malfunction. Thicken the secretions of various organs in the body such as lungs, liver, pancreas and intestines, resulting in respiratory illnesses. Digestive system And the reproductive system Currently, this disease cannot be cured. Treatment can only relieve symptoms. Improve the quality of life of patients And reduce the risk of complications

Cystic Fibrosis

Symptoms of cystic fibrosis

The symptoms of the disease tend to appear early in the child, eg, intestinal inactivity 1-2 days after birth, and more salty sweat than usual seen by kissing the cheeks or kissing the baby’s skin. Little weight Slow growth, etc.

However, some patients may not experience symptoms until they are into adolescence or adulthood. The symptoms of the disease vary according to the age and severity of each patient. Which most symptoms affect the respiratory system Digestive system And the reproductive system as follows

  • Respiratory system Such as persistent cough and mucus, nasal congestion, asthma, dyspnea, wheezing, frequent pneumonia, etc.
  • Digestive system Thick mucus may interfere with digestion. As a result, the small intestine cannot fully absorb nutrients. It causes symptoms such as low weight, bloating, abdominal pain. Intestinal obstructionIn newborns Severe constipation Oily and smelly stools, jaundice, etc.
  • Reproductive system Such as male infertility A cyst in the testicles Testicular retention or testicular failure Slow growing into a young Amenorrhea, etc.
  • Other symptoms Like sinusitis Rhinitis Osteochondrosis, bile duct obstruction in the liver, urinary incontinence, and stasis in which the fingertips are swollen and grow abnormally while the nails are raised, etc.

Even in Thailand, people with this disease are rarely found. But should consult a doctor If a child or family member is found to have Cystic Fibrosis, especially when they have symptoms such as fever, increased cough, bloody sputum, loss of appetite, weight loss, swollen stomach, bloating, or recurring pneumonia.

Causes of cystic fibrosis

Cystic Fibrosis is caused by a genetic disorder. Causing the body to regulate the abnormal movement of salt and water into and out of the cells As a result, secretions in various organs become thicker mucus, such as the lungs, liver, pancreas or intestines, causing severe digestive problems. It affects the sweat glands and the male reproductive system. And possibly life-threatening pneumonia

Cystic Fibrosis Gene Disorders are inherited through heredity. And often symptoms of disease appear when receiving abnormal genes from both parents. But if an abnormal gene is inherited from only one parent, there may not be any symptoms or abnormalities, and the disease can occur in all ethnicities. But it is more likely to happen with white Europeans or descendants of this group.

Diagnosis of cystic fibrosis

If a patient has symptoms that a doctor suspects may be cystic fibrosis, the doctor may diagnose it by the following methods.

  • Sweat test The sweat of people with Cystic Fibrosis is higher than normal.
  • Genetic testing Blood or saliva test To look for abnormal genes that cause this disease
  • Other diagnoses Such as examination of the fat in the stool Trypsin and chimotrypsin enzyme tests in feces Pancreatic function test Seecretin hormone stimulation test Examination of the upper digestive tract and small intestines, etc.

Cystic fibrosis treatment

There is currently no cure for Cystic Fibrosis because it isGenetic disease But can relieve symptoms Improve the quality of life of patients And reduce the risk of complications as follows

Drug use such as

  • Antibiotics are used to treat and prevent pneumonia. It may be an oral dosage form. Or drugs injected into a vein if there is a severe illness
  • Bronchodilator To widen the airways in the lungs And help breathing easier
  • An expectorant to help make mucus less thick And result in better lung function
  • Pancreatic juice replacement drug To help the digestive system absorb nutrients better
  • Ivacafter drug It is a drug that can be used for patients with certain types of cystic fibrosis to improve the normal function of the gene that causes the disease. Causing the thick mucus to be reduced And reduce the amount of salt in sweat

Pulmonary rehab Or a knock on the lungs To do this, wrap your hand in a cup-shaped shape and pat it lightly on different areas of your chest, doing one to four rounds a day to help make it easier to expel mucus from your lungs. Other chest physical therapy suitable for each patient

Pulmonary rehabilitation Including improving the living of the patient to be better, such as breathing techniques. Learn about Cystic Fibrosis and how to live happily with it.

Self care This is because Cystic Fibrosis disrupts the work of the small intestine. And may cause the body to not receive enough essential nutrients Therefore, more self-care should be followed by the following methods.

  • Consult your doctor for nutritional information. The doctor may recommend eating foods that are rich infiber Diets high in salt, multivitamins, reducing drugsacidIn the stomach And may need to consume more calories from the general public
  • Drink waterEnough to help dissolve mucus or mucus in the lungs
  • Get regular exercise, such as walking, running, or swimming to increase your lung function and improve your overall health.
  • Get influenza vaccine and pneumococcal vaccine (Pneumococcus) On a regular basis
  • Don’t smoke and avoid cigarette smoke, pollen, or mold, which can worsen the symptoms.
  • Wash your hands thoroughly to prevent infection. Especially before eating And after doing activities with high risk of infection, such as going to the toilet, doing outdoor activities Or touch patients with all kinds of infections

Surgery such as

  • Rhinoplasty surgery Done in cases where rhinitis causes the patient to breathe. And if the oxygen level in the body decreases Your doctor may also give you oxygen to prevent pulmonary hypertension.
  • Bowel surgery To relieve bowel obstruction in case of emergency
  • Nasal feeding Or temporary abdominal feeding tube surgery because of Cystic Fibrosis May interfere with the work of the digestive system Until the patient is unable to digest food by himself And the body is unable to absorb nutrients normally Therefore, it is necessary to insert a hose for additional nutrients.
  • Lung transplant surgery In case the patient has severe breathing problems The doctor may need to have a lung transplant that is damaged on one or both sides of the lung, and the patient may be at risk of surgical side effects, such as pneumonia.

Complications of cystic fibrosis

The most common problem after illness with Cystic Fibrosis is coping with chronic infectious respiratory disease. In addition, there may be other complications as follows

  • Respiratory complications Such as bronchospasm, bronchitis Sinusitis Recurrent pneumonia, rhinitis, coughing up blood, pleural effusion. And respiratory failure, which can lead to death
  • Complications in the digestive system Such as malnutrition, diabetes, bile duct obstruction, intestinal obstruction, etc.
  • Reproductive complications Such as infertility, etc.
  • Other complications Such as osteoporosis, dehydration, imbalance in the body, etc.

Cystic fibrosis prevention

This is because it is a genetic disease and an abnormal gene is passed within the family. This disease can not be prevented. But can be tested for genetic abnormalities before pregnancy The medical staff will collect both female and male blood samples. For those who have given birth to find that the baby may have Cystic Fibrosis at risk, take the child to the doctor. The doctor may perform tests on the baby. You should always consult with your doctor about possible psychological effects before undergoing genetic testing.

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