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CYSTIC FIBROSIS

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CYSTIC FIBROSIS

Cystic fibrosis is a serious genetic disorder that causes severe damage to the digestive and respiratory systems and some other organs in the body.

  • Cystic fibrosis affects the cells that produce sweat, mucus, and digestive enzymes.
  • Cystic fibrosis is characterized by abnormal secretions, leading to a buildup of thick, sticky mucus that damages the organs.
  • Normally, this secreted fluids (mucus) are thin and slippery and lubricates the lining of various organs and tissues, preventing them from drying out or getting infected.
  • However, in people with cystic fibrosis, the fluids become thick and sticky and may clog the tubes, ducts, and passageway in the body leading to serious life-threatening problems.
  • It may build up in the lungs and block the airways, this makes it easy for bacteria to grow and may lead to lung infections. With time, infections can severally damage the lung.
  • The fluid can also block tubes in the pancreas, this may hinder the digestive enzymes that allow the body to break down food and absorb vital nutrients from reaching the small intestine. This can cause malnutrition and vitamin deficiency.
  • Your sweat can also become very salty. Thus, a large amount of salt is lost when you sweat. This can upset the mineral balance in your blood and may result in serious health conditions such as dehydration, decreased blood pressure, stroke and rarely, death.
  • Cystic fibrosis affects mostly the lungs, pancreas, liver, intestines but also the kidney and the sex organ.
  • Cystic fibrosis also causes infertility in both men and women.
  • Although people living with the disorder require daily care, they can still have a normal life and work or attend school.
  • Cystic fibrosis is most common among white people of Northern European ancestry and least common among Africans and Asians.
  • About 1,000 new cases of the disorder are diagnosed each year.
  • It is the most common inherited disease among white people.

CAUSES

Cystic fibrosis is caused by a defect in the cystic fibrosis transmembrane conductance regulator gene (CFTR gene) which is located on chromosome 7. This gene makes a protein that regulates the movement of water and salt in and out of the body.

Every individual inherits two CFTR genes- one from each parent. In order to have cystic fibrosis, a child must inherit a faulty gene from each parent. Children who inherit one normal gene and one faulty gene will be a carrier of the defective gene and may usually not develop cystic fibrosis. However, they may pass the defective gene on to their own children.

SYMPTOMS

Symptoms may vary depending on the severity and may include:

Respiratory symptoms – if the mucus clogs the airways, it can cause symptoms such as:

  • Wheezing
  • Breathlessness
  • A persistent cough that produces thick mucus
  • Inflamed nasal passages or stuffy nose

Digestive symptoms- if the mucus clogs the tubes in the pancreas, symptoms may include

  • Severe constipation
  • Foul-smelling, greasy stools
  • Poor weight gain and growth especially in children
  • Intestinal blockages particularly in newborns.

DIAGNOSIS AND TREATMENT

DIAGNOSIS

Every state in the United States now routinely perform screening of newborn, this has resulted in early diagnosis within the first month of life even before symptom develops. For people that were born before the inception of the newborn screening, it is essential to be aware of the signs and symptoms.

For newborn screening, a genetic test or blood test is used for diagnosing the disorder.

A blood sample test to check for a higher concentration of immunoreactive trypsinogen (IRT), a chemical released by the pancreas.

A genetic test to show whether the newborn has faulty CFTR gene.

If a genetic or blood test confirms the disorder, further confirmation by carrying out a sweat test.

The sweat test may be conducted when the infant is at least 2 weeks old. A sweat-producing chemical is applied to a small patch of the skin and the sweat is collected on a pad or paper for analysis. High salt levels confirm a diagnosis of the Cystic disorder.

In older children and adult, genetic sweat test may be recommended.

Prenatal screening is also available. Amniocentesis and chorionic villus test can be used to check whether your fetus has the disorder.

If you are planning a pregnancy and your partner has the disorder, you may want to check whether you are a cystic fibrosis carrier.

TREATMENT

There is no cure for the disorder but treatment can ease symptoms and reduce complications.

Historically, children with cystic fibrosis rarely lived beyond their teens. However, with the development of increasingly effective treatment, patients are now living longer.

The goals of treatment are to prevent and control infections that occur in the lungs, to loosen the mucus in the lungs, to treat and prevent intestinal blockages, to provide adequate nutrition and to prevent dehydration.

Treatment may include medications, chest physical therapy, surgical procedures, exercises and pulmonary rehabilitation.