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Cystic Fibrosis

Cystic fibrosis is a perennial lung disorder that is mostly found in children as well as adults. The disease leads to formation of unctuous and viscous mucus in the lungs as well as the digestion track, also in other parts of the body making it a fatal disorder. It could be a genetic disorder, passed from the parents to the offspring, usually because of a defective gene responsible for producing the mucus. The mucus starts building up and blocks the breathing passage in the lungs and also affects the pancreas. It also gives birth to fatal lung infections as well as digestive and reproductive disorders especially in men.

A significant number of Americans have been found with the Cystic fibrosis gene and not carrying the symptoms which makes the diagnosis even more difficult. One in 30 Caucasians have this gene, especially the ones from northern and mid European descent. Children are usually diagnosed by the age of 3. However there are cases when the diagnosis does not take place till the age of 18, the ones with a less severe form of Cystic fibrosis.

Symptoms

Among the newborns the symptoms could be different such as the ones mentioned below:

  • Delay in physical growth.
  • Weight loss and inability to gain weight in the initial years
  • Lack of normal bowel movements during the first few days of birth.
  • Strange taste of the skin, such as salty.
  • Pain in the abdomen and constipation.
  • Excessive gas and swollen belly.
  • Feeling of Nausea and lack of appetite.
  • Abnormal stool that is pale, foul and contains mucus.

cystic fibrosis picture

Other general symptoms include:

  • Excessive coughing and formation of mucus in the lungs as well as severe sinusitis.
  • Blockage of nasal passage.
  • Frequently occurring conditions such as Pneumonia, fever, breathlessness and loss of appetite.
  • Reproductive disorders such as infertility, especially in men.
  • Inflammation of the pancreas also known as pancreatitis.

Diagnosis

More than 75% of the diagnosis is done by the age of three to four. About 10% patients get diagnosed by the age of 18 and as little as 3% are diagnosed by the time they reach adulthood. Usually blood tests are performed to diagnose this disorder in an attempt to look for the defective gene that causes Cystic fibrosis. Other test such as Immunoreactive trypsinogen (IRT) test is also a commonly done test. Another test is known as the Sweat chloride test wherein a higher level of salt found in the patient signifies probability of the disease. X-rays of the chest as well as CT scans are also done for the diagnosis.

Treatment

The treatment usually depends upon the level of diagnosis or the stage of cystic fibrosis. If it gets detected on time the treatment would definitely be more effective for the patient. However in any kind of situation careful monitoring is of utmost importance for an enhanced quality of life. Some prominent treatments are as follows:

  1. Antibiotics are the most common resort in order to control infections that usually affect the patient’s respiratory functions. Here the dosage of antibiotics is more as compared to other diseases.
  2. Medicines such as inhalers are also used to adjust the air passage and clear nasal congestion.
  3. In order to make the mucus thin and to ease coughing breathing treatments such as DNA enzyme therapy is given.
  4. In critical cases lung transplant and oxygen therapy also takes place.

cystic fibrosis lungs

Cystic fibrosis Life expectancy

As discussed above, Cystic fibrosis is a fatal genetic disorder and therefore has a lower life expectancy. However the life expectancy has seen an increase in the last four decades. Wherein the life expectancy in the 1980s was somewhere around 14 years, in the late 1990s it increased to 18 years. Today it varies from 35 to 40 years. We can see that it has increased significantly and there are estimates of a 10 year increase if we talk about the average life expectancy of North Americans.

Presently almost 80% infants with the disease can survive beyond a year or even more. Scientific claims suggest a dramatic increase of almost 30 to 40 years for the life expectancy of children. However the patients with stable pancreatic function can live for more than 50 years. Life expectancy has also seen a rise in Canada as well as in the United Kingdom. Major improvements in science and technology have played a significant role in improving the quality and longevity of the patients with this disorder as compared to the time from 1950s to 1960s and 70s when patients could not survive through their childhood due to limited treatment choices.

1 comment

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