E84.80: Cystic fibrosis with pulmonary and intestinal manifestations

You have cystic fibrosis.

With cystic fibrosis, the genetic information for a particular protein is changed. When beginning its development, every single cell in the body contains a complete blueprint of the body. This blueprint consists of genetic information. The genetic information is encrypted in the chromosomes. Every human cell normally contains 23 chromosome pairs, i.e. a total of 46 chromosomes. Cystic fibrosis can be hereditary. Family members can also be affected.

When the genetic information changes, that particular protein does not work properly. The body needs the protein to produce certain fluids. If the protein does not work properly the phlegm in the lungs and intestine or the pancreatic juice can become very viscous, for example. This can cause organs to get blocked and damaged. Because of the cystic fibrosis you are having problems with your lungs and intestines.

The lungs are on the left and right side of the ribcage. They are also connected to the nose and mouth via the bronchial tubes and windpipe (trachea). You need lungs to breath. When we breathe in, oxygen enters the lungs and accumulates in the blood. This blood then flows to the heart. The heart then pumps the oxygen-rich blood throughout the body. All of the organs are supplied with oxygen as a result. Air enters the lungs through the airways. The lower airways begin with the trachea (windpipe) and continue into the lungs. The airways branch out further into the lungs, becoming smaller and smaller.

It can be difficult to cough up the viscous phlegm. The phlegm can damage the airways. The lungs may then keep getting inflamed and they can become more vulnerable to pathogens. The pathogens may then cause the lung inflammation to be long-lasting. This circulation can result in the lungs being permanently inflamed. This can lead to breathlessness and make you less resilient physically. If the lungs are severely damaged, the heart may also be damaged.

You can have problems with your digestion. This may be because the pancreas is not working properly because of the viscous pancreatic juice. The pancreas is located in the upper abdomen. It regulates the sugar content in the blood and forms substances for digestion, for example. When the pancreatic juice is very viscous, it is harder for these substances to get into the intestine. Food can then be harder to digest and more difficult to absorb through the intestinal mucosa. The intestinal mucosa itself may also be affected. The cells in the intestinal mucosa then produce viscous phlegm which they are unable to properly release into the intestines. The intestines are made up of the small intestine and the large intestine or colon. Most of the nutrients are absorbed in the small intestine. The large intestine (colon) is where water and salt are withdrawn from the stool. The last segment of the large intestine (colon) is the rectum. Stool then leaves the body through the anus.

When the pancreas and the intestinal mucosa are not working well, the intestine is unable to properly absorb nutrients. This can cause very greasy diarrhea, for example, and lead to weight loss. Stool that has not been properly digested can block the intestines. That can occur at the junction of the small intestine and large intestine, for example. This can cause severe abdominal pain.

You may only have a few symptoms or be very sick. That depends on how much of the altered protein you have.