Cystic Fibrosis

The lungs, digestive system, and other organs of the body suffer significant damage from the hereditary condition known as cystic fibrosis (CF).

The cells that make mucus, perspiration, and digestive fluids are impacted by cystic fibrosis. Usually, these produced fluids are flimsy and thin. However, a faulty gene makes secretions thick and sticky in CF patients. Particularly in the lungs and pancreas, the secretions clog tubes, ducts, and passageways rather than serving as lubricants.

Despite the fact that cystic fibrosis is progressive and necessitates daily care, most CF patients are able to work and attend school. Their quality of life is frequently higher than that of CF patients in earlier decades. People with CF may now live into their mid-to late-30s or 40s, and some are even reaching their 50s, because to advancements in screening and treatment.

Ailments

Because of newborn screening, cystic fibrosis can be identified in the first month of life in the United States, even before symptoms appear. However, those who were born before newborn screening was made accessible could not receive a diagnosis until they exhibit CF-related signs and symptoms.

The signs and symptoms of cystic fibrosis might vary based on how severe the condition is. Over time, symptoms can get better or worse in the same person. Certain individuals might not exhibit symptoms until their adolescence or maturity. Individuals who are identified later in life typically have milder forms of the disease and are more prone to experience atypical symptoms like infertility, recurrent pneumonia, and episodes of inflamed pancreas (pancreatitis).

Sweat from people with cystic fibrosis contains more salt than usual. When parents kiss their kids, they can frequently taste the salt. The respiratory and digestive systems are affected by the majority of additional CF signs and symptoms.

Signs and symptoms related to breathing

The tubes that carry air into and out of your lungs get clogged with the thick, sticky mucus characteristic with cystic fibrosis. This may result in symptoms and indicators like:

• A chronic cough that discharges viscous mucus (sputum)
• Sighing
• Practising intolerance
• Recurrent pneumonias
• Stuffy nose or inflamed nasal passageways
• Chronic sinusitis

Signs and symptoms of digestion

Additionally, the tubes that deliver digestive enzymes from your pancreas to your small intestine may become clogged by the thick mucus. Your intestines can’t fully absorb the nutrients in the food you eat without these digestive enzymes. As a result, frequently:

• Oily, foul-smelling faeces
• Poor growth and weight gain
• Intestinal obstruction, especially in infants (meconium ileus)
• Prolonged or extreme constipation can result in a portion of the rectum protruding outside the anus due to constant straining during stool passage (rectal prolapse).

Reasons

A malfunction (mutation) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene causes alterations in a protein that controls the flow of salt into and out of cells in cystic fibrosis. The respiratory, digestive, and reproductive systems produce thick, sticky mucus as a result, and sweat becomes more salted.

Gene faults can take many different forms. The severity of the illness is correlated with the type of gene mutation.

For a child to be diagnosed with the condition, they must inherit one copy of the gene from each parent. Children who receive a single copy of the gene will not develop cystic fibrosis. They may, however, pass the gene on to their own offspring because they will be carriers.

Risk elements

Family history poses a risk for cystic fibrosis because it is a genetic condition that runs in families. While CF affects people of all ethnicities, white individuals with Northern European ancestry are most likely to have it.

Avoidance

You and your partner may decide to undergo genetic testing before to starting a family if you or your partner has close relatives who suffer from cystic fibrosis. Your chance of having a kid with cystic fibrosis (CF) can be ascertained using the test, which is carried out in a lab using a blood sample.

Your doctor can perform further testing on your developing child if the results of the genetic test indicate that your unborn kid may be at risk of cystic fibrosis and you are already pregnant.

Testing one’s genetics is not for everyone. Speak with a genetic counsellor about the potential psychological effects of the test results before deciding to get tested.