Cystic Fibrosis : A Common Fatal Recessive Genetic Disease

Cystic fibrosis is an genetic disease that can cause bad damage to the lungs and other organs in the body. It is a common genetic (Gene) disease affecting to geriatric, (adults) young adults, or and kids. Now they’re still searching for a cure, but the only thing that is currently available is a donor’s lungs.

Cystic Fibrosis (CF) is an autosomal recessive genetic disease that causes thickened mucus to form in the lungs, pancreas, and other organs. It affects a specific protein called Cystic Fibrosis Transmembrane Regulator (CFTR) that controls the normal movement of sodium, chloride, and water in and out of the cells within the body. Those diagnosed with CF have either too little or abnormal CFTR. When CFTR is absent or defective, the mucus usually secreted by the cells in the pulmonary airways, pancreatic ducts, and gastrointestinal tract become thickened, leading to obstructions, frequent infection, and loss of function in the affected organs (Cystic Fibrosis Symptoms, Causes & Risk Factors, 2018). According to the Cystic Fibrosis Foundation

The Cystic Fibrosis Foundation provides support to help improve the lives of people who live with the disease. The foundation’s main goal is to find a cure to Cystic Fibrosis is an inherited disease caused by changed in a gene on chromosome seven. It is described as a buildup of mucus in the lungs and organs. The mucus in the lungs clogs the airways and bacteria grows, gets blocked in and eventually leads to infections that causes lung damage. After lung damage has occurred, respiratory failure then happens.

According to the Cystic Fibrosis Foundation (CFF), their 2012 patient registry polling indicated cystic fibrosis as a genetic disease affecting over 30,000

Cystic fibrosis is a hereditary disease of the secretory glands that produce mucus and sweat. This is caused by mutations on chromosome 7 and can affects the lungs, pancreas, liver, intestines, sinus and sex organs of the patients.

Every day, people die from Cystic Fibrosis. That is why Cystic Fibrosis is known as the most deadly inherited disease. There is no real cure of CF but, right now there are many ways to ease your symptoms and help you manage the condition. “Every day, people with CF complete a combination of the following therapies Airway clearance, Inhaled medicines, Pancreatic enzyme supplement and sometime oxygen therapy depending on how severe your condition is”(McLoud). Since there is so many new advancements in treatment, people who have CF now live twice as long as they did 30 years ago.

Cystic Fibrosis cannot be developed or contracted it is something you’re born with. CF is a recessive disease, it occurs when a child inherits one defective copy of the gene from each parent. This gene mutation is responsible for cystic fibrosis. ("Cystic fibrosis Canada," 2011) This gene is known as the CFTR gene ("www.medincinet.com," 1996). Reference Figure 3. The “gene makes a protein that controls the movement of salt and water in and out of your body's cells. In people who have cystic fibrosis, the gene makes a protein that doesn't work right. This causes the thick, sticky mucus” ("www.medincinet.com," 1996).

Oftentimes, the first thing that comes to mind when someone mentions an inherited genetic disease is cancer, or even diabetes. However, there are hundreds and thousands of other inherited diseases that effect millions of people each year but are over-looked or underrepresented for various reasons. An example of one of these disease is Cystic Fibrosis(CF). There is not much popularity associated with Cystic Fibrosis because there’s limited research on the topic. However, according to the Cystic Fibrosis Foundation, C.F. is a genetic disease that is essentially a severe cold that never goes away. Mucus builds up in the lungs as well as the pancreas and can impair a persons breathing capabilities (About Cystic Fibrosis 1). Cystic fibrosis is a

Cystic Fibrosis, a very serious inherited genetic disease, is also known as CF and sixty-five roses. This disease affects one in every 3,000 live births. It may first appear in a newborn, but can appear all the way up until a young adult. However, ten percent of most cases are apparent at birth. CF affects the lungs and causes a build-up of abnormally thick mucus which leads to chest infections, and CF also affects the reproductive system. Doctors do not know what causes the mucus to thicken. CF’s infections usually lead to death in childhood and early adulthood. Most people infected with CF had a life span into their teens long ago. Now, due to advanced technology, the life span is in the fifties or older.

I along with my group members chose the topic of Cystic Fibrosis. This is a disease that affects roughly 70,000 children worldwide. The first definitive description of Cystic Fibrosis was found in a child by Dr. Dorothy Anderson in 1938. There had been earlier sightings of the disease as far back as the late 1800s. It was denoted by the taste of salt on a Childs forehead when kissed by a parent. This idea was proven when Paul di Sant'Agnese proved that there was an increased salt excretion within patients who suffered from Cystic Fibrosis. With this break through the ability for doctors to be able to diagnose children became a lot easier and got rid of a large number of invasive tests that were not as effective. In 1985 the medical

Children are usually diagnosed with Cystic Fibrosis at an early age of just 2. Children will start to show early signs of the disease. They will start to feel pain in the lower abdomen and start having extreme episodes of nausea. Cystic Fibrosis is a deadly disease because of all the mucus that is being built up in the lungs. The life expectancy for someone with this disease is usually 37; the number has risen over the past few years with new technology and medicines coming to light. Since the disease has no cure, it takes a huge toll on home life and the family finances because of the advanced treatment planes. Cystic fibrosis is a defective gene disorder,

Cystic Fibrosis, or CF, is a genetic disease that affects children to young adults. It occurs when a child has two defective copies of the gene that causes cystic fibrosis, one from each parent. The disease primarily affects the digestive system and it also affects the respiratory system, mainly the lungs bronchi and bronchioles. Cystic fibrosis affects the cells that produce mucus and digestive juices, as it changes the protein that regulates the movement of salt in and out of cells. Which leads to people thick and sticky mucus and digestive juices, such as pancreatic juices. Whereas people who do not have CF have thin and slippery mucus and digestive juices. The severity of the disease differs from one person to the next, yet the

Cystic Fibrosis (CF) is the most common fatal genetic disease in the United States today. CF is an autosomal recessive disease that occurs approximately one out of 3,300 live births (Cystic Fibrosis Foundation, 1998). Autosomal means that the gene for CF is not carried on the sex chromosomes and males and females are both afflicted

Cystic fibrosis is a rare genetic disease that causes many respiratory and digestive complications within the body. It is incurable but treatable through many improved medical methods involving antibiotics, machines, and surgery. Despite medicinal improvements in the last 80 years since the disease’s discovery, cystic fibrosis is still dangerous, especially if not detected early on. It can be diagnosed through a blood or sweat test taken shortly after birth. CT scans and x-rays are additional procedures that may be used.

Cystic Fibrosis (CF) is an autosomal recessive genetic disorder most commonly found amongst the Caucasian population. In the United States, the reported prevalence of CF for the Caucasian population is 1:3200, for African American is 1:15000 and for Asian American is 1:310001.