Скачать или смотреть What is Cystic Fibrosis (CF)?

Cystic fibrosis (CF) 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.

Gradually over time, the lungs develop recurring pneumonia due to the accumulation of bacteria in the pulmonary mucous 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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