What is Cystic Fibrosis (CF)?


Cystic fibrosis is an autosomal
recessive condition where there is an abnormality in the transport of sodium
chloride across cell membranes. There are more than 1,700 mutations
of the cystic fibrosis gene. More than 1,000 new cases are diagnosed each year. Screening for the carrier state of cystic
fibrosis is a genetic test that is performed on a blood sample or mouth swab. With cystic fibrosis, there are abnormally thick
and viscous mucus secretions. These thickened secretions affect
many organs of the body. This includes especially the pancreas
the liver and the lungs. Cystic Fibrosis may present as early childhood asthma due to the thickened secretions of the lungs. Cystic Fibrosis can be diagnosed by
wearing a sweat patch for 24 hours. The patch is then analyzed for the
sodium chloride content. Increased sodium chloride levels
in the patch indicate cystic fibrosis. Over time the lungs develop recurring pneumonia
due to the accumulation of bacteria in the pulmonary mucus plugs and loss
of pulmonary function. There is plugging of pancreatic ducts which causes the loss of pancreatic secretions necessary for digestion. Children with cystic fibrosis have slow growth even though they have great appetites this is due to the reduced secretion
of digestive enzymes which are necessary for digestion and
absorption of nutrients.

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