Cystic Fibrosis

In order for a person to have cystic fibrosis, they must inherit a copy of the cystic fibrosis gene mutation from both parents. If the parents are able to pass the cystic fibrosis gene on to the child, they must either have cystic fibrosis, or they must both be a carrier of the condition. Because of this being the only way a child can develop the condition; genetic testing is required for an accurate diagnosis.

Parents who know that one or both of them are a carrier should be tested in order to determine what their chances are in having a child with cystic fibrosis. This is extremely helpful when making family planning decisions.

How Cystic Fibrosis manifests itself

Cystic fibrosis is a condition that is normally detected during childhood. It is a genetic disease that progresses over time. The disorder causes repeated lung infections, and over time, it can decrease the person's ability to breathe at a normal rate.

People with cystic fibrosis have a gene that is considered defective. It allows the buildup of thick mucus in the lungs, as well as the pancreas and other vital organs. The most serious problem comes when mucus builds in the lungs and clogs the airways. This mucus traps the bacteria, which leads to repeated infections. Over time, these infections cause extensive damage to the lungs, and eventually the person can suffer from complete respiratory failure.

The mucus builds up in the pancreas prevents it from releasing digestive enzymes. These enzymes keep the body from breaking down food and absorbing the nutrients that food provides. The lack of nutrients makes it difficult for the body to heal itself, which wears the immune system down quickly.

Patients with cystic fibrosis present symptoms that can vary from person to person.

Common symptoms seen in cystic fibrosis include salty-tasting skin, a cough that is persistent and sometimes produces phlegm, frequent lung infections, bouts of pneumonia, and bouts of bronchitis. Other symptoms include wheezing, shortness of breath, slower growth pattern, slow weight gain, greasy stools, and males may suffer from infertility.

Genetics

There are people who carry the gene for cystic fibrosis, these people are called carriers. A carrier does not have the disease, but they can pass an active gene to their children if their partner carries it too.

Cystic fibrosis is caused by the CF gene that either becomes abnormal or mutates completely. According to current research, there are more than 1,700 mutations that have been documented to date. Unfortunately, due to testing limitations, only the most common mutations are looked for in the testing process.

Since there are so many mutations of the CF gene, each person with cystic fibrosis may suffer from different symptoms. They type of gene mutation also determines how severe the symptoms are. Some sufferers live normal lives and can be managed by a primary care physician, while others are in and out of the hospital for treatment on a regular basis.