Causes Of Cystic Fibrosis: A Genetic Disease

Nearly 1 in every 30 Americans are a carrier of the recessive gene that leads to CF (About Cystic Fibrosis, n.d.). Although CF is a life-threatening condition, through the advancement of treatments and care, there has been a steady increase in life expectancy and improvement in the quality of life. The current mean age of survival is now 40. Although that does not seem very high, sixty years ago, a child diagnosed with CF did not survive childhood (About Cystic Fibrosis, n.d.). CF is a complex disease, where the types and severity of symptoms can differ widely from person to person. Symptoms may include fatigue, salty-tasting skin, persistent cough with phlegm, wheezing and shortness of breath, lung infections, and poor growth and weight loss (Cystic Fibrosis Symptoms, Causes & Risk Factors, 2018). Many different factors, such as the age of diagnosis, can affect an individual's health and the course of the

Cystic fibrosis is an existence restricting autosomal recessive disorder that influences 70,000 people around the world. The condition is known to affect principally those of European descent, though cystic fibrosis has been accounted for in all races and ethnicities. [12] Unusually viscous emissions in the airway of the lungs and in ducts of the pancreas in people with cystic fibrosis cause hindrances that prompt aggravation, tissue harm and destruction of both organ systems. Studies show that Cystic Fibrosis is more prominent in White Americans than African Americans, and Hispanics. A large number of Americans are carriers of this mutated Cystic Fibrosis gene, however if an individual is affected they must acquire two of these genes keeping

Cystic Fibrosis is an inherited condition. However, the gene for Cystic Fibrosis is recessive and

A defect in the CFTR gene, or cystic fibrosis transmembrane regulator gene, is what causes Cystic Fibrosis. Every person inherits two of these genes, one coming from each parent. If a child inherits a faulty CFTR gene from both parents they will have CF. If a child inherits only one faulty CFTR gene, they are considered “CF carriers” ("What Causes Cystic Fibrosis?," 2013). More than 10 million Americans are carriers of the defective CF gene ("Cystic Fibrosis Foundation – Testing for Cystic Fibrosis," 2014). Carriers are able to live a normal, healthy life and they usually have no symptoms of CF, however, they could pass the faulty CFTR gene down to their children ("What Causes Cystic Fibrosis?," 2013). Carrier testing is available to help people identify if they could pass down the gene. The test uses blood samples or scraped cells from inside the cheek to look at a person’s genetic material ("Cystic Fibrosis Foundation – Testing for Cystic Fibrosis," 2014). The figure below shows how the CFTR gene can be inherited (Kotrla, 2014).

Cystic Fibrosis (CF) is a disorder causing the body to release extremely thick and sticky mucus that clogs the lungs and pancreas, leading to problems with breathing and digestion, infection, and ultimately death. Abnormal secretion of sweat and saliva glands is also characteristic of CF. This disease a hereditary disorder of the exocrine glands that is characterized by respiratory and digestive problems and the most common inherited disease among Caucasians, affecting 3,600 live births in the Canada alone. CF affects men and women equally, but affects white people more than black people. This disease mainly affects children and young adults and is diagnosed by the age of three. Due to the advances in genetic research, diagnosis has been

According to the CFF Homepage several clinical manifestations include; salty-tasting skin, persistent coughing, often times with phlegm, common lung infections, wheezing, shortness of breath, poor growth or weight gain in spite of a good appetite, regularly greasy, bulky stools or constipation, and male infertility. Salty-tasting skin occurs because the epithelial cells on the sweat glands are affected, large amount of salt is released when the patients sweats, leaving a salty frosting on the skin. A persistent cough is expected because the lungs are trying to remove the phlegm and clear the airway. Lung infections are frequent because the “buildup of mucus makes it easier for bacteria to grow and cause infections” (What Are the Signs and Symptoms of Cystic Fibrosis? (n.d.)). Wheezing and shortness of breath are also caused because of the buildup of mucus in the lungs. Patients with cystic fibrosis have poor growth or weight gain in spite of a good appetite, as the mucus that lines the intestines enables the patient from getting enough nutrients because the pancreas cannot release the necessary enzymes to help absorb fats and proteins. Since the intestines cannot fully absorb fats and proteins, this causes regular greasy, bulky stools or constipation. “In 97–98% of men with CF, a bilateral congenital absence of the vas deferens (CBAVD) blocks the transport of spermatozoa from

Cystic Fibrosis is the most common genetically inherited disease in Australia with one out of every twenty-five people are carriers of the CF gene or similar gene mutations that end in a CF , symptoms of Cystic Fibrosis depend on the level of severity of the gene. Carriers will develop thick and sticky mucus within the lungs, airways, as a result carriers will experience a persistent and difficult cough, breathlessness, the inability to exercise, constant lung infections, inflamed nasal passage is the reason the life expectancy is 25 years of age. The CF gene also has a significant effect on the digestive symptoms such as foul smelling and greasy excretes with strain to excrete, intestinal blockage, the inability to gain weight and constipation.

Cystic fibrosis (CF) is an inherited autosomal recessive disorder that affects the lungs and digestive system most often. In the United States some 30,000 children and adults have CF. There are approximately 1,000 new cases of cystic fibrosis diagnosed each year in the US with 70% of patients diagnosed with CF by the age of two, 40% of patients with CF are 18 or older. In the 1950's most children with CF did not survive to attend elementary school, but in 2006 the median age of survival was 37 years (Cystic Fibrosis Foundation, 2007).

What is Cystic Fibrosis? Cystic Fibrosis is a progressive genetic disease that causes persistent lung infections that limits you the ability to breath. The first ever case of CF was in 1938 by Dr. Dorothy Anderson a Pathologist. He found the disease to be caused by malnutrition Dr. Dorothy called the disease “Cystic Fibrosis of the Pancreas”. Cases of this disease in the 1950s where difficult because people never lived long enough to make it to elementary school. With the advances of technology over the years people with CF live long enough to make a family and finish their careers. Over the years scientist and doctors still have not found a cure for CF. Lung cancer is one of the most serious side effects of getting CF because of mucus getting clogged up in the lungs.

Cystic Fibrosis or CF is a life threatening genetic disorder that mainly affects the lungs and digestive system. Cystic Fibrosis is most common among the Caucasian population, particularly people of northwestern European descent and is less common in people of African ancestry and is very rare in people of Asian ancestry. According to the Cystic Fibrosis Foundation, “an estimated 30,000 children and adults in the United States (70,000 worldwide) have CF” (Cystic Fibrosis Foundation, 2014).

Cystic fibrosis is a genetic disease that affects the respiratory system, digestive/endocrine, and reproductive system. A defective gene produces an abnormally thick mucus in the trachea and causes a blockage in the trachea, damages lung, and resulting in failure of the respiratory system. The mucus also interferes with the pancreas, which it prevents the secretion of digestive enzymes that help dissolve food, causing difficulty in absorbing nutrients. CF causes infertility, particularly in men. However, they are not sterile, therefore they can have children with assisted reproductive techniques. In most cases, many of them are diagnosed with CF before the age of 2 because the newborns are screened immediately after birth. On the other hand,

The Cleveland Clinic offers services for those suffering with Cystic fibrosis, providing diagnostic services and innovative treatment options. At the Cleveland Clinic one can receive chest x-rays, sinus x-rays, lung function tests, genetic testing and newborn screenings for cystic fibrosis. As a part of the treatment program, patients visit the care center four times per year and receive treatment for their symptoms.

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

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

There are many possibilities of how your child could have gotten Cystic Fibrosis. I have attached a chart below known as a pedigree that will explain how your child was affected. There are two ways of getting CF. Cystic Fibrosis can be gotten if the child inherits two copies of CFTR (Cystic fibrosis transmembrane conductance regulator) gene that contain mutation. Each of these have to be one copy from each of the