What is cystic fibrosis?

Cystic fibrosis is a genetically inherited disorder that causes damage to the digestive system, lungs, liver, pancreas and other organs of the body. This damage is a result of thick mucus buildup i`n the cavity of organs.

Cells that produce mucus, sweat and digestive enzymes in your body are most affected by this disease.

 Under normal circumstances fluids that are secreted from these cells are runny and smooth just like oils, and they help lubricate various tissues and organs of your body. In people infected with cystic fibrosis, a gene causes these fluids to become extremely thick and sticky so instead of lubricating, they start clogging all the tubes, ducts and passageways in the patient’s body.

Cystic fibrosis can lead to life-threatening infections. According to a study approximately 2000 people are diagnosed every year in the United States with cystic fibrosis.

If the disease is diagnosed early the quality of life can be improved with the help of treatment.

 

What are the signs and symptoms of cystic fibrosis?

Symptoms and signs of cystic fibrosis vary depending on the severity of the condition. In some cases symptoms start appearing at infancy but for other children symptoms start to show after puberty or even later than that in life.

One of the first and foremost signs of cystic fibrosis is a strong salty taste to the skin which is reported by parents of children with cystic fibrosis that they get a salty taste in their mouth when they kiss their child. The reason behind this is that people with cystic fibrosis have a higher level of salt in their sweat.

 

As cystic fibrosis impacts the respiratory and digestive system the following are the symptoms that may appear:

 

Respiratory symptoms; When the sticky mucus starts clogging the tubes that are responsible to carry air in and out of your lungs following symptoms may appear:

  •     stuffy nose
  •     shortness of breath
  •     wheezing
  •     a cough that doesn’t goes away and produces thick phlegm
  •     lung infections
  •     inflammation in the nasal passage

 

Digestive symptoms: A point comes when the thick mucus starts blocking the tubes that carry digestive enzymes from the pancreas to your intestines. And when the supply of these enzymes is interrupted your intestines become unable to absorb the nutrients from the food you eat so following are the signs that may appear:

  •     nausea or vomiting
  •     constipation
  •     swelling on the abdomen
  •     loss of appetite
  •     poor growth in children
  •     foul smelling stools
  •     greasy stool
  •     poor to almost no weight gain

 

What are the causes of cystic fibrosis?

Cystic fibrosis is an inherited disease caused by a change or mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. If this gene doesn’t work the way it should a sticky mucus starts building up in different organs of your body

 

How can cystic fibrosis be diagnosed?

For the diagnosis of your child you must visit the  Best Child specialist in Islamabad. They will evaluate your child by observing their symptoms and looking for evidence of CFTR dysfunction that is based on an abnormal sweat chloride test. However, the presence of clinical symptoms is not necessary when it comes to newborns.

Following are the procedures that may be performed to diagnose cystic fibrosis:

  •     Immunoreactive trypsinogen test  (IRT): This is a screening test for newborns to check for abnormal protein levels in the blood. A high level of IRT is a sign of cystic fibrosis.
  •     Sputum test: For sputum test a sample of mucus is collected which confirms if the patient has an infection or not.
  •     Sweat chloride test: This is the most common type of diagnostic tests performed for diagnosing cystic fibrosis. The test checks for high levels of salt in the sweat. For this test sweat is collected on paper or a pad and then analysed in a lab.
  •     Chest X-ray: A chest X-ray reveals any swelling or blockage in the respiratory passages.
  •     CT Scan: A CT scan uses x-ray machines to create detailed images of the body. These images help your doctor in taking a closer look at internal structures and assess any organ damage that may be caused due to cystic fibrosis.
  •     Pulmonary Function Tests PFTs: PFTs help determine if your lungs are working properly or not by measuring how much air is being inhaled and exhaled. Any abnormalities in the result of PFTs are an indication of cystic fibrosis.

 

How can cystic fibrosis be treated?

Although there is still no cure for cystic fibrosis, some treatments can help relieve symptoms and reduce possibilities of complications. Following are a few treatments prescribed by doctors for cystic fibrosis:

Medications:

  •     Antibiotics can help in getting rid of lung infection and preventing the recurrence in future.
  •     Bronchodilators help relax the muscles around tubes that carry air in and out of your lungs
  •     Mucus thinning medication makes the mucus thin and less sticky.
  •     Nonsteroidal anti-inflammatory drugs NSAIDs help reduce inflammation in the airway.

Surgical procedures:

  •     Cystic fibrosis interferes with digestion and absorption of nutrients from food so a feeding tube that is surgically inserted through the nose into the stomach may help supply nutrition adequately to the body.
  •     Bowel surgeries are performed to remove a section of the bowel to relieve any blockages that may occur due to cystic fibrosis in the bowels.
  •     Double lung transplant is done for patients with cystic fibrosis to improve the length and quality of life and give them freedom from symptoms like coughing and shortness of breath.

 

Chest therapy:

Physical therapy for the chest may help loosen thick mucus from the lungs. For this the patient needs to rest their head over the edge of bed and clap with cupped hands along the sides of their chest. Mechanical devices are also for some patients to clear the mucus during chest therapy.

 

Home care:

If you are a cystic fibrosis patient yourself or you have someone with cystic fibrosis at home Best Child specialist in Lahore suggests following these care tips at home:

  •     Walk, bike or swim; in short exercise regularly it will help loosen the mucus in your airways.
  •     Get pneumonia and influenza shots regularly.
  •     Drink fluids in great amounts as they help thinning down the mucus in your lungs.
  •     Avoid smoking at all costs.

    Try avoiding contact with pollen and mold as these irritants can make your symptoms worse.

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