Cystic fibrosis

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Cystic fibrosis

You should know that the cystic fibrosis is an inherited disorder which is causing severe damage to lungs, digestive system and other organs in our bodies. This disorder is affecting the cells which produce digestive juices, sweat and mucus. When people are healthy, then these secreted fluids are thin and slippery. But when people suffer from cystic fibrosis, then a defective gene is causing the secretions to become sticky and thick. These secretions are not acting like lubricants. Instead, they plug up tubes, ducts and passageways, especially in the pancreas and lungs. This disorder requires daily care but people who suffer from it are usually able to attend work and school and they often have a better quality of life compared with people who had cystic fibrosis in past decades. There are improvements in screening and treatments which means that people who suffer from disorder may live into their mid – to late 30s, on average and there are some people who live into their 40s and 50s.

Cystic fibrosis

Cystic fibrosis

Symptoms: In every state in the United States of America, screening of newborns for cystic fibrosis is now performed. As a result of it, this condition can be diagnosed within the first month of life before symptoms develop. Those people who are born before newborn screening was performed, it is very important to be aware of the signs and symptoms of cystic fibrosis. The signs and symptoms of cystic fibrosis vary, depending on the severity of this disease. Also you should know that even in the same person, symptoms may worsen or improve as the time passes. It is known that there are some people who may not experience symptoms until adolescence or adulthood. Those people who suffer from cystic fibrosis have a higher than normal salt in their sweat. Parents can taste the salt when they are kissing the children. Most of other signs and symptoms of this disorder are affecting the digestive system and respiratory system. Those adults who are diagnosed with this disorder are more likely to have atypical symptoms, such as recurring pneumonia, infertility and recurring bouts or inflamed pancreas (pancreatitis).

  • Respiratory signs and symptoms: When the cystic fibrosis is affecting the respiratory system, then thhe sticky and thick mucus which is associated with this disorder clogs the tubes that carry air in and out of the lungs. This can cause signs and symptoms such as
  • Inflamed nasal passages or a stuffy nose
  • Repeated lung infections
  • Exercise intolerance
  • Breathlessness
  • Wheezing
  • You have a persistent cough that produces thick mucus (sputum)
  • Digestive signs and symptoms: The thick mucus can block the tubes which carry digestive enzymes from the pancreas to small intestine. Without the digestive enzymes, intestines are not able to completely absorb the nutrients in the food that you eat. The result is often:
  • Severe constipation
  • Intestinal blockage, particularly in newborn (meconium ileus)
  • Poor weight gain and growth
  • Foul – smelling, greasy stools

It is known that the frequent straining while passing stool can cause part of the rectum (the end of the large intestine) to protrude outside the anus (rectal prolapse). When this is happening in children, then it can be a sign of cystic fibrosis. Parents should talk with a physician which knows about this disorder. The rectal prolapse in children in some cases may require surgery. There are some studies in which are said that the rectal prolapse in children who suffer from cystic fibrosis is less common than it was in the past, which can be due to earlier testing, diagnosis and treatment of this disorder.

Causes: When people have cystic fibrosis, then there is a defect (mutation) in the gene which changes a protein that regulates the movement of salt in and out of the cells. The result of this is thick and sticky mucus in the reproductive, digestive and respiratory systems as well as increased salt in sweat. There are many different defects which can happen in the gene. The type of gene mutation is associated with the severity of cystic fibrosis. It is known that children need to inherit one copy of the gene from each parent in order to have cystic fibrosis. Those children who inherit only one copy, they will not develop this disorder. But these children will be carriers and they can pass the gene to their own children.

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