โรคซิสติกไฟโบรซิส (Cystic Fibrosis) อาการ สาเหตุ การตรวจวินิจฉัย และการรักษา

Cystic Fibrosis

Cystic Fibrosis is a genetic disorder affecting the cells that produce secreted fluids, including mucus, sweat and digestive juices.

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Cystic Fibrosis

Cystic Fibrosis is a genetic disorder affecting the cells that produce secreted fluids, including mucus, sweat and digestive juices. These affected fluids become sticky and thick. The obstruction of these secretions in tubes results in a damage to several parts of the body, including the lungs, digestive system and other organs.

Symptoms

Signs and symptoms of cystic fibrosis vary and depend on the severity of the disease. The signs and symptoms may occur in any age. However, people with cystic fibrosis who have not been diagnosed may experience irregular symptoms, such as recurring pancreatitis and recurring pneumonia.

The signs and symptoms of cystic fibrosis differ to the affected area including:

  • Respiration. People with cystic fibrosis that causes an obstruction of thick and sticky mucus in the tubes of the lung may experience:
    • frequent cough with sputum
    • wheezing
    • intolerance of exercises
    • recurrent lung infections
    • a stuffy nose or inflamed nasal passages
    • repeated sinusitis
  • Digestion. The thick fluids can obstruct in the tubes carrying digestive enzymes and lead to:
    • incompletely absorbent of nutrients
    • smelling and greasy stools
    • weight gain problem
    • growth problem
    • intestinal blockage, especially in newborns
    • Chronic or severe constipation


When to see a doctor

You are advised to consult a doctor if you or your baby has any signs and symptoms that seem related to cystic fibrosis, such as a change in the color of the mucus, fatigue, weight loss or severe constipation.

Immediate medical care is highly recommended if you or the baby is

  • coughing with blood.
  • having chest pain .
  • having a breathing problem.
  • having severe stomach pain.
  • having distention.


Causes

Cystic fibrosis is an inherited disorder related to changes of a protein that functions the movement of salt in and out of cells. The abnormal level of salt in cells causes thick and sticky mucus in respiratory, digestive and reproductive systems. People with this condition can also experience an increase of salt in sweat.

Risk factors

People whose family member is involved with cystic fibrosis have more risk of the disease.

Complications

There are several complications in affected systems including:

Complications in the respiratory system

  • Bronchiectasis
  • Chronic infections
  • Nasal polyps
  • Hemoptysis
  • Pneumothorax
  • Respiratory failure
  • Worsened respiratory symptoms

Complications in the digestive system

  • Lack of nutrients
  • Diabetes
  • Liver disease
  • Intestinal blockage
  • Distal intestinal obstruction syndrome

Complications in the reproductive system

  • Infertility in men
  • Decreased fertilities in women

Other complications

People with cystic fibrosis may have other complications including:

  • Osteoporosis
  • Dehydration
  • Mental health problems


Diagnosis

The diagnosis for cystic fibrosis depends on the age of the patients. The diagnosis may include a physical exam, reviewing the symptoms, and several tests.

  • Diagnosis and screening in newborns. Cystic fibrosis can be diagnosed at birth. screening tests may including:
    • Blood test to check for the level of a chemical called immunoreactive trypsinogen (IRT)
    • Sweat test to measure the level of salt
    • Genetic tests to check the IRT levels to confirm the diagnosis
  • Tests of older children and adults. If you are not screened at birth and have several symptoms that seem related to cystic fibrosis, such as recurring inflamed pancreas, nasal polyps, shonic sinus or lung infections, the doctor may recommend several choices of tests to diagnose cystic fibrosis including:
    • Genetic tests
    • Sweat tests


Treatment

There is no specific treatment for cystic fibrosis. However, the aims of the recent treatment are to:

    • prevent and control lung infections.
    • remove and loosen mucus from the lung.
    • cure and prevent intestinal blockage.
    • provide appropriate nutrition.         

The treatment may include medications, medical procedures and surgery.

Medications

The doctor may prescribe several medications depending on your affected system and symptoms in order to treat and relieve the symptoms. The medications may include:

  • Medications for targeted gene mutations
  • Antibiotics
  • Anti-inflammatory medications
  • Mucus-thinning drugs
  • Inhaled medications
  • Oral pancreatic enzymes
  • Stool softeners
  • Acid-reducing medications
  • Specific medications for diabetes or liver disease if necessary

Chest physical therapy (CPT)

The doctor may recommend this airway clearance technique to relieve the obstruction of mucus and reduce infection and inflammation in the airways.          

Pulmonary rehabilitation

This long-term program may be recommended to improve the function of the lungs. The program may include:

  • Physical exercise
  • Breathing technique
  • Counseling of nutrition
  • Counseling and support

Medical procedures

There are several choices of medical procedures including:

  • Oxygen therapy
  • Feeding tube

Surgery

The doctor may recommend some surgery according to your condition, such as:

  • Noninvasive therapy
  • Nasal and sinus surgery
  • Bowel surgery
  • Lung transplant
  • Liver transplant


Preparing for an appointment

Before your appointment, you may prepare some of your or your baby’s information including:

  • the symptoms
  • the beginning of the symptoms
  • whether anything improves or worsens your symptoms
  • history of your family member involved with cystic fibrosis
  • the rate of growth and weight

Published: 25 Oct 2020

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