Cystic Fibrosis

Cystic fibrosis
Cystic fibrosis

What is Cystic Fibrosis?

This medical disorder is an autosomal recessive genetic disorder. It affects your liver, pancreas, intestine, sex organs, sinuses, and most critically your lungs. It affects your secretory glands, which include your sweat and mucus glands. The people that are most commonly affected are Caucasian people but it can also affect African-Americans, Native Americans, and Hispanics. You will very seldom see it in people who are of Middle Eastern and Asian origin. Approximately one in twenty-nine Caucasian Americans have the gene that can cause cystic fibrosis.

In 1989 the gene that causes cystic fibrosis was first discovered, enabling researchers and scientists to develop tests to see who the carrier of the gene is, better treatment for those with cystic fibrosis, and better control of the medical condition.

Cystic Fibrosis Symptoms

The symptoms of cystic fibrosis depend on how severe the disease is affecting the person. In fact, sometimes the symptoms in a person could improve or get worse as times goes along. Symptoms in children usually appear during infancy but there are others that do not have any symptoms until they reach adolescence or older. Most people with cystic fibrosis have a level of salt that is higher than it normally should be in the sweat on their body and often parents will say that when they kissed the children they can taste the salt. Many symptoms of cystic fibrosis affect the digestive or respiratory system.

Respiratory symptoms

One thing that is a normal part of cystic fibrosis is the sticky, thick mucus that clog the tubes in your lungs that carry your air both in and out of your lungs. This mucus can cause these symptoms:

  • A cough that is persistent and produces thick mucus and spit.
  • Breathlessness
  • Wheezing
  • Repeated infections of the lungs
  • Stuffy nose or nasal passages that are inflamed
  • The ability to exercise decreases

Digestive symptoms

The sticky thick mucus an also block the tubes that take the digestive enzymes from the pancreas to the small intestine. If your intestines do not have these enzymes the nutrients in what you eat cannot be absorbed completely. When this happens it can:

  • Give you stools that are greasy and foul smelling
  • Cause you to have poor growth and weight gain
  • Cause intestinal blockage, especially in newborns
  • Constipation that is severe
  • Stomach pain because of the accumulation of gas

Other Symptoms

  • Infertility in men caused by an absence or blockage of the tube that carries the sperm out of your testicles.
  • Difficulty conceiving in women because of blockage of thick mucus blocking the cervix.
  • Poor growth in children even though they are eating good.
  • Low bone density and clubbing which is when the tips of your toes and fingers start to round and get wider.

If a person strains to have a bowel movement it could cause you to have a rectal prolapse.

Cystic Fibrosis Causes

The main cause of cystic fibrosis is the gene is improperly coded. It is genetic and inherited. Either parent can be a carrier if they carry one gene that causes cystic fibrosis. Even though they may be a carrier they live a totally symptom free healthy life. The mutation, or defect, in the gene causes the protein that is responsible for the regulation of the salt in your cells moving in and out to change. This causes the sticky thick mucus that is found in your reproductive, respiratory, and digestive systems. There are a variety of defects that can happen in this gene and the type of gene mutation determines how severe their case of cystic fibrosis will be.

It is a gene that is recessive and a child inherits the gene from their parents. All a child has to do to develop cystic fibrosis is to inherit from each parent a single copy of the gene. The child will not develop the disease but will be a carrier if they only get one copy. If they are a carrier they could pass the gene on.

Diagnosis

Most children who have cystic fibrosis are diagnosed by the time they turn two years of age but if it is a milder case they may not be diagnosed until they are eighteen years of age or older. In the United States every state will routinely screen new babies to see if they have cystic fibrosis so treatment can start sooner. When they do a screen test on the baby they take a blood sample. They are checking to see if the level of the chemical immunoreactive trypsinogen (IRT) that is released by your pancreas is higher than normal. If the baby’s IRT is high this does not necessarily mean it has cystic fibrosis because the higher level could be due to a delivery that was stressful or premature birth.

They physician will perform other tests to confirm the diagnosis such as:

Sweat test

The physician will put a chemical that produces sweat on a tiny area of the skin and then the sweat that appears is collected to see if it is saltier than it normally should be. This test is normally done with the baby turns one month old.

Genetic testing

The physician can take DNA samples from saliva or blood to check the gene that is responsible for this condition for specific defects.

If you are an older child or adult and did not have the screening at birth and are suffering from episodes of inflamed pancreas that keeps recurring, chronic lung or sinus infections, or nasal polyps they may suggest a sweat test and genetic test to check for cystic fibrosis.

Cystic Fibrosis Treatment

Although there is not a cure for this medical condition there are treatments that can help decrease complication and ease the symptoms of cystic fibrosis. Treatment goals include:

  • Helping to prevent and control infections of the lungs
  • Helping to loosen and remove the mucus from your lungs
  • Helping to prevent and treat blockage of your intestinal tract
  • Making sure that nutrition that is adequate.

They may also prescribe medications such as:

  • Antibiotics to help prevent and treat infections of the lungs.
  • Mucus thinning medication that will make you cough the mucus up to help improve the function of the lungs.
  • Bronchodilators that will help keep open airways by helping your bronchial tubes muscles relax.
  • Oral pancreatic enzymes that will help nutrients be absorbed by your digestive tract easier.

They may also do chest physical therapy that is done up to four times each day to help loosen the mucus in your lungs to make it easier to cough. The physician may also order pulmonary rehabilitation to help improve the functions of your lungs. They may also have to do oxygen therapy if there is a decrease in the level of your blood oxygen.

Life Expectancy

During the early part of the twentieth century the life expectancy was only six months but all the research that has been done the life expectancy now is thirty-five to forty years of age. This is due to the advancements in treatment and diagnosis. There is no difference as to which gender lives longer although in years past males use to outlive females. What actually determines how long a person with cystic fibrosis lives depends on the severity of the symptoms and the type of mutation of the gene. In addition, if a person has oxygen therapy their lifespan could be lengthened. Another thing that could expand a person’s life is having a lung transplant.

Cystic Fibrosis Pictures

Pictures of Cystic Fibrosis…

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