Everything you need to know about cystic fibrosis

If your child has a high appetite but never gains weight; has regular bouts of pneumonia and other lung infections, and their skin is always salty, have them checked for cystic fibrosis. This condition strikes babies and can be carried into adulthood.

According to World Health Organization, cystic fibrosis is a genetic disorder that causes difficulties and problems with breathing and digestion. “Previously, this condition has been a rapidly fatal disease in children but with improved treatment, it is transforming into a chronic disorder that persists into adulthood,” says the WHO. The Pathologists Lancet Kenya further adds that cystic fibrosis can cause severe damage to the lungs and other organs in the body. “This condition affects cells that produce mucus, sweat, and digestive juices. These secreted fluids are normally thin and slippery,” states the Pathologists Lancet Kenya. “But in people with this condition, a defective gene causes the secretions to become sticky and thick. Instead of acting as lubricants, the secretions clog tubes, ducts, and passageways, especially in the lungs and pancreas.”

According to the Centre for Disease Control, there are three things that come with extremely thick and sticky fluids. “The mucus not only damages the lungs by blocking the airways, but it also traps in germs which makes infections more likely to strike the patient.” “Also, it prevents proteins needed for digestion from reaching the intestines, which decreases the body’s ability to absorb nutrients from food.” People with cystic fibrosis will also be likely to have secondary health conditions. “Patients with cystic fibrosis are at an increased risk of developing diabetes, cirrhosis also known as liver disease, arthritis, reflux, hypersplenism also known as overactive spleen, and osteoporosis.

Causes

According to Pathologists Lancet Kenya, this condition is largely the result of defective genes that alter the regulation of the movement of salt in and out of cells. “In cystic fibrosis, a defect (mutation) in a gene — the cystic fibrosis transmembrane conductance regulator (CFTR) gene — changes a protein that regulates the movement of salt in and out of cells.” “This is what results in the thick, sticky mucus in the respiratory, digestive, and reproductive systems.”

Symptoms

According to the Centre for Disease Control, the signs and symptoms of this condition include:

• Cough that doesn’t go away, often with thick mucus or blood
• In their inability to gain weight despite having a good appetite and taking in enough calories.
• Wheezing or shortness of breath
• Frequent lung or sinus infections. These might include pneumonia or bronchitis.
• Greasy, bad-smelling stools or constipation
• Salty-tasting skin. For instance, if your child has this condition, you will notice that their skin is always salty whenever you kiss them on the forehead or cheeks.
• Nasal polyps also known as growths in the nose
• Poor growth or weight gain in childhood
• Male infertility

The World Health Organization states that cystic fibrosis usually presents in the first year of life with failure to grow normally, maldigestion, and repeated severe respiratory infections. In some cases, symptoms are milder and diagnosis is delayed until later in childhood or even adult life.

Diagnosis

According to the WHO, the diagnosis of cystic fibrosis can be made only after birth even though there are ongoing attempts to develop fetal monitoring and diagnostic tools. The WHO recommends you seek a diagnostic test for your child if you already have another child with cystic fibrosis in the family. “You may also seek a diagnostic test if there’s a clinical history of unexplained lung disease or intestinal malabsorption due to pancreatic insufficiency in your family,” states the WHO.

Treatment

According to the WHO, the current mode of treatment for cystic fibrosis is directed toward secondary and tertiary complications that arise from this condition. This includes improving breathing and digestion, preventing and treating infections, and thinning the mucus blocking the airways and trapping germs. “For instance, maldigestion, as a result of pancreatic insufficiency causes nutritional deficiency in most infants with cystic fibrosis. Digestion can be achieved using supplemental pancreatic enzymes,” states the WHO. “Fat-soluble vitamins are needed to support growth and prevent deficiency. A high-calorie and high-protein diet with adequate essential fats are important in the management”. The CDC adds that treatments for this condition will include medicines, therapy, and in some cases, lung transplant.

In the same vein, the Cleveland Clinic, a medical centre highlights that when you visit your health professional for treatment, the medications will mostly aim to get rid of the secondary reactions you are getting from this condition. You may be prescribed:

• Antibiotics to treat your lung infections or prevent lung infections.
• Inhaled bronchodilators make breathing easier by opening and relaxing your airways.
• Inhaled medicine to make mucus thinner and easier to get rid of.
• Anti-inflammatory drugs, including steroids and non-steroidal anti-inflammatories.
• Medications to treat the cause of cystic fibrosis in people with certain gene variants.
• Pancreatic enzymes aid in digestion.
• Stool softeners to help with constipation.