Cystic fibrosis is the most common cause of pancreatic insufficiency in children, but a condition called Shwachman-Diamond Syndrome (SDS) is the second most common cause. SDS is a genetic condition that causes a reduced ability to digest food because digestive enzymes don't work properly. Some of the symptoms of SDS are similar to those of CF, so it may be confused with cystic fibrosis. However, in children with SDS, the asthma-like symptoms. As CF symptoms progress, the child may develop a chronic cough that produces globs of thick, heavy, discolored mucus. They may also suffer from repeated lung infections.
As chronic infections reduce lung function, the ability to breathe often decreases. A person with CF may eventually begin to feel short of breath, even when resting. Despite aggressive medical therapy, lung disease develops in nearly all patients with CF and is a common cause of disability and shortened life span.
Identifying a Child With CF
By performing genetic tests during pregnancy, parents can now learn whether their unborn children may have CF. But even when genetic tests confirm CF, there's still no way to predict beforehand whether a specific child's CF symptoms will be severe or mild. Genetic testing can also be done on a child after birth, and can be performed on parents, siblings, and other relatives who are considering having a family.
After birth, the standard diagnostic test for CF is called the sweat test — an accurate, safe, and painless way to diagnose CF. In the sweat test, a small electric current is used to carry the chemical pilocarpine into the skin of the forearm. This stimulates sweat glands in the area to produce sweat. Over a period of 30 to 60 minutes, sweat is collected on filter paper or gauze and tested for chloride.
To diagnose CF, two sweat tests are generally performed in a lab accredited by the Cystic Fibrosis Foundation. A child must have a sweat chloride result of greater than 60 on two separate sweat tests to make the diagnosis of CF. Sweat test normal values for infants are lower.
Several other tests are standard parts of the routine care used to monitor a child's CF:
- chest X-rays
- blood tests to evaluate nutritional status
- bacterial studies that confirm the growth of Pseudomonas aeruginosa, Staphylococcus aureus, or Haemophilous influenza bacteria in the lungs (these bacteria are common in CF but may not affect healthy people exposed to CF)
- pulmonary function tests (PFTs) to measure the effects of CF on breathing (PFTs are done as soon as the child is old enough to be able to cooperate in the testing procedure; infant PFTs are currently being studied)
Treating Kids With CF
When kids are first diagnosed with CF, they may or may not have to spend some time in the hospital, depending on their condition. If they do, they'll have diagnostic tests, especially baseline measurements of their breathing (lung function) and a nutritional assessment. Before they leave, their doctors will make sure that their lungs are clear and that they've started a diet with digestive enzymes and vitamins that will help them to gain weight normally. Afterward, they'll probably see their doctor for follow-up visits at least once every 1 to 3 months.
The basic daily care program varies from child to child, but usually includes pulmonary therapy (treatments to maintain lung function) and gene therapy, and test trials are underway in at least nine different U.S. medical centers and other centers around the world. Another new therapy, called protein repair therapy, aims at repairing the defective CFTR protein. Numerous medications, including a spice called curcumin, are also being tested.
Caring for a child with CF can be tough at times, but parents need not feel alone. Doctors can usually refer them to a local support group linked to the Cystic Fibrosis Foundation.
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