Categorías: Todo - symptoms - mutation - malnutrition - enzymes

por Aleah Mather hace 2 años

129

Cystic Fibrosis

Cystic Fibrosis (CF) is a genetic disorder caused by mutations in the CFTR protein, requiring both parents to carry the gene for a child to inherit the condition. Researchers are currently investigating the role of acid levels in blood and developing antibiotics to combat resilient lung pathogens associated with CF.

Cystic Fibrosis

Cystic Fibrosis

History of CF

To test if a person had CF, their sweat would be checked for excessive salt levels. If they were very high they had CF and if they didn't they were normal.
CFTR is the gene linked to CF but it wasn't discovered until 1989. For 70% of CF diagnosis', it stems from 3 base pairs of DNA being deleted in the position 508.
The first mention of cystic fibrosis was by Dorothy Anderson in 1938. Autopsies in children revealed that malnutrition due to thickening of mucus was a major cause of death.

Similarities to Other Disorders

Many disorders are very similar to CF such as Asthma. Asthma can enhance intense breathing problems as well as lung issues similar to CF. Since CF affects the lungs and pancreas the most, Pancreatitis is also very similar. Constipation can be very common in CF patients due to a weak lower system.

Current Research

Over time pathogens can begin to get more resilient and can turn into much worse things. Luckily, science teams are working on antibiotics to help fight tough lung pathogens. Science teams are also testing to see if acid levels in blood may have something to do with CF. If there's less acid in the airways then the chance of CF can be greatly reduced.

Treatments & Prevention

Medicines people use are often antibiotics to reduce chest infections and lung infections. Bronchodilators help widen the airways to make breathing easier while mucus is surrounding. Small growths can form in the nose due to irritation but are cured by steroid medication.
Cystic Fibrosis currently has no direct cure but has many different treatments to limit symptoms. The medicines they take are used to thin the mucus in the throat to make it easier for people to cough up. The medicine can also reduce how much mucus is in the body at all given times.
Support

The government supports people with CF by covering them with lots of tax benefits such as caregiver tax credit, medical expenses tac credit, and many more. Students may also receive $2,000 for school expenses covered by the government every year. People with CF are protected by the Human Rights Act, as well as the Charter of Rights.

People with CF have many support groups including the government, local groups, and many close CF communities. One group is Cystic Fibrosis Canada and on their website you can find helplines that lead you to people who share similar experiences or links for government support.

Symptoms

Complications with the pancreas can cause malnutrition and poor growth. If symptoms get worse it can result in liver diseases such as, Steatosis or Cholelithiasis. In other cases, it can result in men having troubles having children.
In a person with CF, their pancreas and liver are at the biggest risk of damage. Their lungs can become filled with mucus causing them to get frequent lung infections which can then result in more serious respiratory issues. With the pancreas, it's vital that we're able to take in nutrients our bodies need but with CF it's much more difficult. The thick mucus build-up prevents the digestive enzymes to consume nutrients like it normally should.
With newborn children, signs to spot CF are excess amounts of mucus in the lungs, as well as lung infections. Common infections are Pneumonia and Bronchitis.

Cause of Cystic Fibrosis

When a child has CF, their body will create either abnormal CF or none at all.
Cystic Fibrosis (CF) is caused by a mutation in the cystic fibrosis transmembrane regulator (CFTR) protein. In order for a baby to get it, both parents must carry the CF gene.