Cystic fibrosis (CF) is a rare genetic disease which affects the digestive and respiratory systems in children and young adults. It was first identified in 1938 at New York Babies Hospital by pathologist Dr. Dorothy Andersen.
Here are 20 interesting facts about cystic fibrosis:
#1 CF is a serious genetic disease (cannot be “caught” like the flu or a cold) that causes the body to make sticky, thick mucus. This will lead to major problems in 2 areas – the lungs and the digestive system. It can also produce a buildup of mucus in the pancreas and other organs.
#2 To make normal mucus, the body needs a protein. This special protein is defective in this condition, resulting in the buildup of the thick mucus which causes problems for patients.
#3 Mutations in a single gene named CFTR – the Cystic Fibrosis Transmembrane Regulator – cause this disease. CFTR gene was identified in 1989, and, since then, more than 900 different mutations of this gene have been classified.
#4 In the U.S., 1 child in every 3500 live births is affected with CF, and, approximately 30,000 people have this disease. In addition, around 1,000 new cases of this genetic disease are diagnosed each year.
#5 Furthermore, 20,000 Europeans and 3,000 Canadians are living with CF. It is the most usual serious genetic disease in Australia, affecting 1 in every 2500 babies. Additionally, about 1 in every 2,500 babies born in the United Kingdom has CF. According to statistics, there are aproximately 70,000 people living with this condition in the entire world.
#6 If one parent is a carrier of the CFTR gene, there is a 25 percent chance that each child they have will have this disease. Moreover, a child born from two CF patients (a very extreme rare scenario) would be at a 100% risk of developing this genetic disease. Parents of a child with this condition are urged to have genetic counseling before planning a pregnancy.
#7 Around 1 in every 25 individuals is a carrier for CF gene.
#8 Numerous women with this problem are able to get pregnant and give birth to healthy children if their partners don’t have this gene.
#9 The symptoms of this disease commonly manifest within the 1st year of life, albeit, CF symptoms may not show up until adolescence or even later.
#10 60 years ago, the life expectancy of a patient with CF was around 5 years. Presently, thanks to improved treatments and medication, these patients have seen life expectancy extend notably, up the age of 50. Nevertheless, on the average, people with this disease have a lifespan of approximately 31 years.
#11 CF can affect individuals of any race and in any region in the world, but it is most frequent in white people of Northern European ancestry.
#12 After some years with this disease, the lungs become severely damaged and many patients living with this condition will require a lung transplant in order to prolong their life. End-stage lung disease is the main cause of death for a CF patient. The longest surviving people who had lung transplants as a result of CF had an extension of the life of 15 years.
#13 In 85% of CF cases, patients have a deficiency in their pancreas caused by thick, sticky mucus obstructing the pancreatic ducts.
#14 This disease also affects all the body’s exocrine glands. Exocrine glands create compounds which are essential for a correct functioning of the body. In addition, some babies have meconium ileus, a congestion of the intestine that appears right after birth.
#15 Sufferers with CF can develop many related conditions, including weakened bones (osteoporosis), diabetes, and liver problems. Almost all men (98 percent) with CF are infertile due to the tube that connects the prostate gland (vas deferens) and testes are either missing entirely or obstructed with mucus.
#16 The symptoms of this rare disease are different among patients. Each person can develop different symptoms.
#17 This condition has numerous symptoms, including:
- a persistent cough;
- excessive appetite but poor weight gain;
- constipation, difficulty with bowel movements, and bulky stools;
- clubbed toes and fingers;
- very salty-tasting skin;
- frequent lung infections including pneumonia or bronchitis;
- shortness of breath;
- salt loss in hot weather that may lead to fatigue.
#18 The most frequent test for this disease is the sweat test. It measures the amount of salt in the sweat. If the test comes back positive, it means the sweat collected has more salt (sodium chloride) than normal and results in a diagnosis of this condition.
#19 Treatment to ease the symptoms and make the condition easier to live includes:
- digestive enzyme supplements (these should be taken before every meal to help the digestive system break down food);
- dietary changes (fruits, legumes, whole grains, vegetables, nuts, and seeds are good a good choice);
- physical therapy (it should be done on a daily basis, and the length of physiotherapy sessions may be different from patient to patient, depending on how clogged the lungs are);
- prescription medications (such as bronchodilator drugs, antibiotics, steroids).
#20 Currently, neither gene therapy nor any other type of cure exists.
References http://edition.cnn.com/2017/03/13/health/ https://www.ncbi.nlm.nih.gov/pubmed/27292156 https://www.cff.org/Research/Developing-New-Treatments/Clinical-Trials/