What cystic fibrosis does to the body: what body part does cystic fibrosis affect?

Medically reviewed: 15, February 2024

What is a Cystic Fibrosis?

Cystic Fibrosis is the commonest inherited disorder in the USA. One in every 2,500 babies is born with cystic fibrosis. One in twenty-five people carry the defective recessive gene. It affects more than 7,500 babies, children and young adults in the United States.

In cystic fibrosis a defective version of a protein called CFTR (Cystic Fibrosis Trans-membrane Conductance Regulator) is produced.

This is responsible for the transport of salts and water across the cell membranes. This means that in certain parts of the body, the secretions lack water, becoming thick and sticky.

This means the lungs; pancreas (an internal organ which controls blood sugar and produces enzymes to break down food); intestines and other organs tend to get clogged up with thick, sticky mucus. Symptoms include poor weight gain, chest infections, coughs, abnormal stools and salty sweat.

There have been improvements in the management of cystic fibrosis in recent years and with recent advances in treatment, most affected children now survive into adulthood. There is no cure for cystic fibrosis, but the faulty gene has been identified and further important medical advances are expected.

Symptoms of Cystic Fibrosis, what cystic fibrosis does to the body

The symptoms of cystic fibrosis vary. Sometimes a newborn baby will have a swollen abdomen due to not passing meconium (thick, sticky greenish-black feces) normally passed by infants for the first day or two after birth. The meconium can be so thick in babies with cystic fibrosis that it blocks the intestine.

Other symptoms usually develop later, including the child passing pale, oily and particularly foul smelling feces, poor weight gain and failure to thrive.

Cystic fibrosis affects the enzyme secretion of the pancreas and the enzyme-secreting glands in the wall of the bowel. This causes defective absorption of important food constituents. Also recurrent upper respiratory tract and chest infections, causing persistent coughing and breathlessness.

Sinusitis and nasal problems are also common. Their sweat contains excessive salt and the skin may be powdered with dried sweat.

Later in life, people with cystic fibrosis are prone to bronchiectasis, bowel obstruction problems, failure to absorb food properly infertility and cirrhosis (scarring) of the liver.

What are the causes of cystic fibrosis?

Cystic Fibrosis is caused by an abnormal gene, carried by approximately 1 in 25 people in the UK. The abnormal gene occurs on chromosome number 7.

When a baby is born with cystic fibrosis, both parents must be carriers of the faulty gene. If both parents carry the gene there is a one in four chance their baby will have the disease, a two in four chance their child will be a carrier and a one in four chance of their child neither having cystic fibrosis or being a carrier.

Diagnostics of cystic fibrosis

Genetic testing is available to adults with a family history of cystic fibrosis and partners of people who have the disease. Genetic counseling will be offered if the test is positive.

About a third of babies in the USA are tested for cystic fibrosis at birth using a heel prick blood test, but this is not routinely done in all hospitals.

If cystic fibrosis is suspected:

• A sweat test will be carried out to look for abnormally high levels of salt in the baby’s sweat
• DNA analysis of the gene defect
• X-rays of the lungs

Prenatal diagnosis for Cystic Fibrosis can be ascertained with the use of CVS (chorionic villus sampling) It is then for the parents to decide whether or not to carry on with the pregnancy.

Cystic Fibrosis Treatment

Physiotherapy helps clear the thick, sticky mucus from the lungs. Parents are taught how to do this for their child by the physiotherapist. Older children and adults with Cystic fibrosis can learn to manage their own physiotherapy.

Medication:

• Bronchodilator drugs open the airways by relaxing the neighboring muscles. Antibiotics help to treat or control persistent infection. Steroids reduce inflammation in the airways.
• DNase is a drug used to less sticky and thinner and so is easier to cough up.
• Acetylcysteine is a drug is used to reduce the stickiness and viscosity of mucus.

Exercise is important for people with Cystic fibrosis as it helps prevent deterioration of the lungs and develops physical bulk and muscle strength.

Posture and chest mobility is important.

A suitable, energy rich, nutritious diet is essential. Malabsorption of food is treated with pancreatic enzyme supplements.

A heart and lung transplant may be performed when the lungs become too damaged for other treatments to be effective.

‘Gene therapy’ is currently being researched. Gene therapy involves the addition of a healthy, working copy of the faulty gene into the appropriate cells of the body. As lung damage is the major cause of illness and death in cystic fibrosis, initially, gene therapy is focusing on delivering genes to the lungs.

Gene therapy for Cystic fibrosis has involved the normal gene being inserted into a virus (e.g. common cold virus), or to use liposomes (fatty substances that naturally adhere to the surface of cells) containing the normal gene.

Trials of gene therapy have had limited success so far, with the effects often proving short-lived. However research is ongoing.

Are there any complications of cystic fibrosis?

The possible complications of the disease include:

• ‘Telescoping’ (intussusception) of the bowel
• Secondary heart failure
• Pancreatitis
• Lung collapse
• Increased risk of developing diabetes
• Liver cirrhosis and its associated problems
• Obstruction within the biliary tract
• Most men with cystic fibrosis are infertile

Women with cystic fibrosis have a slight risk of developing reduced fertility due to changes in the cervical mucus.

This article is written by

Veronica Martinez - Terapeut

Latest articles

All articles

• February 15, 2024GastroenterologyCrohn’s disease: what is it?
• February 10, 2024DiabetesDiabetic neuropathy: causes, symptoms and treatment
• February 3, 2024Cardiovascular diseasesPrevention of Ischemic Stroke or Recurrent Ischemic Stroke
• February 3, 2024Children's healthDiphtheria (cough tetanus): causes, symptoms, treatment