What You Need to Know about Cystic Fibrosis

November 12, 2012

What You Need to Know about Cystic Fibrosis

Cystic fibrosis (CF) is a potentially deadly genetic disease. In America, 1 in every 4,000 babies is born with cystic fibrosis. The mucus membranes go into overdrive, producing a constant flow of thick mucus that can block up the lungs and interferes with the pancreas. The mucus cannot be coughed up and often becomes infected. CF also causes sudden changes in the amount of salt and water inside of individual cells. Because the pancreas is affected, the body has great difficulty trying to digest food. If left untreated, children with CF die of internal organ failure partially due to malnutrition. People with CF only live to an average of 37 years and 4 months. Genetic Cause of Cystic Fibrosis Mucus, sweat and saliva are controlled by a gene called cystic fibrosis transmembrane conductance regulator or CFTR. Healthy people have two copies of this gene, even though only one is needed for a body to avoid getting CF. But in some families, the CFTR gene mutated dangerously into 1400 known mutations. But any of these mutated genes causes the body produces a chemical called CFTR protein and the unfortunate person develops cystic fibrosis. For an unknown reason, Caucasians are far more prone to possessing and passing down the CFTR protein to their children than other ethnic groups. The second most common group is people of Mediterranean descent. A child with CF received two copies of the mutated CFTR gene from both of its parents. Common Symptoms Children usually start showing symptoms before they are 2 years old, but sometimes symptoms do not begin until a child is as old as 18. The younger a child is when symptoms begin, the stronger the disease is. Common symptoms in children include:

  • Breathing problems, including wheezing

  • Weight loss or lack of weight gain despite a healthy appetite

  • Poor growth despite access to food

  • Constantly coughing up phlegm or bits of mucus

  • Passing large, grease-covered stools

  • Painful constipation due to large stools

  • Skin that tastes extremely salty

  • Strange skin growths inside of the nose, called polyps.

Adults with CF develop other problems:

  • Men will become infertile

  • Painful bouts of pancreatitis

  • Osteoporosis or brittle bones

  • Diabetes

  • Recurring pneumonia.

Diagnosis Anyone suspected of suffering from CF is given a genetic test to determine if they suffer from a mutated CFTR gene. The cheek is swabbed to gather cells and sent off to a laboratory. Another test is called a sweat test. It measures the amount of chloride in sweat. People with CF contain higher chloride levels than normal people. An electrode is placed on the patient to make that area sweat. Many patients are diagnosed by the time they are 48 hours old and will need a genetic test to confirm the diagnosis. Any newborn 48 hours old that still has not passed its first stool will receive a tentative diagnosis of CF until the genetic test can confirm the diagnosis. Treatment Cystic fibrosis is incurable, but can be managed, depending on how severe it is. Many CF patients receive a combination of diet and medication to survive. Medications include mucus-thinners, antibiotics and pancreatic enzymes to help the person digest food. Patients may also be given medications to reduce swollen air passageways. These medications are called antihistamines and bronchodilators. Patients with CF will need regular screening tests like X-rays in order to check on damage to the pancreas, intestines and lungs. In extreme cases, a patient will need one or both lungs transplanted.

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