Cystic fibrosis is a genetic disorder that was first identified in 1938 by a pathologist named Dr. Dorothy Andersen from New York Babies Hospital. However, the first mutation in the CFTR gene that causes the disease was identified only in 1989, by a team of geneticists headed by Dr. Tsui Lap-chee, in the Hospital for Sick Children, Toronto. Here are some more cystic fibrosis facts that will help you understand the disease better.
Cystic Fibrosis Facts You Should Know
Cystic Fibrosis Affects Bodily Systems
This is probably the most defining one among cystic fibrosis facts – the disease is known to affect the digestive and reproductive systems in the body.
It Is An Inherited Disease
Cystic fibrosis is inherited in an autosomal recessive manner. The condition rises if both parents are carriers of the mutation in the CFTR gene and pass the defective gene to their child. However, if the child inherits only one copy of the defective gene, then the child would become a carrier of cystic fibrosis. In such cases, the symptoms of the disease will not be present.
The Disease Is Rare In Asia
Worldwide, the incidence of cystic fibrosis varies. In the United States of America, 1 child in every 3500 live births is affected with cystic fibrosis. Cystic fibrosis facts published after research state that a majority of Americans are carriers of the mutation, but however, they remain ignorant about the condition. In Europe, 1 child in every 2000-3000 live births is affected by cystic fibrosis. However, cystic fibrosis facts also state that it is relatively rare in Asia, though it may also be largely under-diagnosed.
The Symptoms Might Vary
The most common symptoms of cystic fibrosis are coughing, frequent respiratory infections, salty skin, weight loss, and greasy stools. The organs in the body that are mainly affected are the sinuses, lungs, liver, intestines, pancreas, and reproductive organs. However, the symptoms might vary from mild to severe, and between individuals.
Excess Mucus Causes Most Complications
The effects of cystic fibrosis are many. In individuals with cystic fibrosis, the sensory glands (mucus and sweat glands) are the most affected. The mucus is sticky and thick and accumulates in the lungs, and this in turn blocks the airways. Such blockage causes repeated lung infections, eventually injuring the lungs and causing severe breathing difficulty. The mucus also blocks the ducts in the pancreas that make the digestive enzymes, and because of this, the digestive system is affected. The body doesn’t absorb nutrients like proteins and fats effectively, resulting in malnutrition and deficiency. The sweat glands also produce salty sweat, leading to weakness, a drop in the blood pressure, increased heart rate, dehydration, heat stroke and in some cases, death.
The Condition Can Be Easily Diagnosed
Cystic fibrosis diagnosis can be done by measuring the amount of salt present in a skin sample. Blood tests that measure the protein trypsinogen and genetic tests where the CFTR gene is screened for mutations are other common diagnostic tests.
There Is No Cure For Cystic Fibrosis
So far, there is no known cure for cystic fibrosis. However, an early diagnosis can aid in managing the disease well. Through proper cystic fibrosis treatment and care, you can definitely improve your lifespan and counter the disease over time.
It is essential to know such basic cystic fibrosis facts, as these will help you identify any symptoms at the earliest possible opportunity, among your friends or even family members.