Cystic fibrosis is a multisystem autosomal recessive genetic disorder that results in a persistent lung infection. Children with CF may also have trouble growing and gaining weight.
The majority of people with the disorder are of Caucasian descent, hence, CF is most prevalent in Europe, North America, and Australia.
List Of 30 Interesting Facts About Cystic Fibrosis:
1) It is a multisystem genetic disorder that was first described in 1938 by Dr. Dorothy Andersen.
2) People with the disorder can have a variety of symptoms, including:
- frequent lung infections;
- very salty-tasting skin;
- shortness of breath;
- persistent coughing, at times with phlegm;
- difficulty in bowel movements;
- frequent bulky stools;
- poor weight gain in spite of a good appetite;
- decreased fertility in women;
- infertility in men;
- unexplained weight loss;
- frequent chest infections that may include pneumonia.
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3) Complications caused by CF are:
- sinus infections;
- CF-related diabetes;
- progressive lung damage from aberrant inflammation and chronic infections;
- some affected babies have a blockage of the intestine, which occurs shortly after birth;
- adults with CF may experience health problems affecting the reproductive and digestive systems;
- malnutrition and vitamin deficiencies due to the inability to absorb nutrients;
- problems digesting proteins and fats.
4) The disorder is caused by a mutation in a single gene called the ”Cystic Fibrosis Transmembrane Conductance Regulator” (CFTR).
5) CFTR gene regulates the transport of chloride ions (they have important physiological roles) across epithelial cell membranes in the lungs, pancreas, gut, and certain other organs.
6) The gene is situated on chromosome 7 and is comprised of 27 exons. The protein encoded by the Cystic Fibrosis Transmembrane Conductance Regulator gene is a cAMP-regulated chloride channel situated in the apical membrane of exocrine epithelial cells.
7) This disorder is inherited in an autosomal recessive pattern, which actually means that both copies of the gene in each cell have genetic mutations. To have CF, a child must inherit one copy of the CFTR gene mutation from each parent.
8) People who have only one copy of a Cystic Fibrosis Transmembrane Conductance Regulator gene mutation do not have the disorder. They are called “CF carriers.”
9) Each time two CF carriers have a child, the chances are:
- 25% – the child will not be a carrier of the gene and will not have the disorder;
- 50% – the child will be a carrier but will not have the disorder;
- 25% – the child will have the disorder.
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10) People who have a family history of CF are at an increased risk due to the fact that it is an inherited disorder.
11) CF is most common among Caucasians of Northern European descent. But, it is known to occur in all ethnic groups.
12) In the United States, the average life expectancy for a patient with CF is 40,6 years.
13) In Canada, the average life expectancy for a patient with CF is 50.9 years.
14) Life expectancy is notably lower in certain countries, like – India, El Salvador, Hungary, Bulgaria, and Romania, where it is less than 15 years.
15) In the United Kingdom, the average life expectancy is 35 to 40 years. Some patients live well beyond that.
16) Although several organs are affected, severe lung disease is the main cause of most of the mortality and morbidity in CF sufferers.
17) The disorder is generally diagnosed through a sweat test. The sweat test measures the amount of chloride in sweat. A high level of chloride in the sweat is an indication of the disorder.
18) In order to determine whether an individual is a carrier of a CF genetic mutation or to screen for the disorder in newborns to help diagnose CF, CF gene mutation testing may be used.
19) Even though a cure for the disorder has yet to be developed, suferrers have benefited from numerous treatments to improve their symptoms.
20) The primary treatments for lung problems in individuals who have the disorder are physical exercise, chest physical therapy, and medications.
21) It can extend and improve the quality of life of a patient with CF, however, it involves a commitment to living the lifestyle needed to keep your new lungs healthy and an extensive evaluation process.
22) If the transplant is successful, it is essential to remember that you will still have the disorder in other parts of the body.
23) Overall post-transplant 1-, 5- and 10-year survival is about 87.8%, 66.7%, and 50.2%.
24) It may offer a potential avenue for curing CF through the repair of the defective CFTR gene. Gene therapy includes methods like inserting an extra copy of a normal gene into a cell to replace the faulty gene. The CFTR gene was cloned in 1893.
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25) People with CF should have a healthy diet, although many patients will need more calories to maintain a healthy body weight.
Eating foods rich in iron, calcium, zinc, and sodium chloride is also important for healthy nutrition. Some people with the disorder might find it helpful to keep track of calories.
26) Worldwide, approximately 95,000 people have CF. It affects females and males at approximately the same rate.
27) It is estimated that around 3,400 people in Australia have the disorder and over 4,100 Canadians have it. Also, an estimated 11,000 individuals in the UK have CF.
28) In the European Union, over 39,000 patients have CF, and only 5 percent are aged over 40 years.
29) In the United States, CF affects approximately 1 in 100,000 Asian-Americans and 1 in 17,000 African-Americans. In total, over 31,000 individuals have CF.
30) The disorder affects around 1 in 3,500 white newborns.
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