Cystic Fibrosis: Genetically Transmitted 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 causes abnormal amounts of excessively thick and sticky mucus to develop within the lungs, airways and the digestive system. Due to the thick and sticky mucus, digestive functions in the pancreas are impaired and bacteria is trapped in the lungs causing recurrent lung infections. Cystic Fibrosis Victoria (2015) states that symptoms of Cystic Fibrosis can include:

Cystic Fibrosis is a genetic disease which is progressive and limits breathing ability. The lungs and other organs are affected by a thick buildup of mucus. This mucus traps bacteria which leads lung damage, infections, and respiratory failure. The digestive enzymes being released is prevented, affecting the breakdown of food and nutrients being absorbed. ?More than 30,000 children and adults in the United States have Cystic Fibrosis. 70,000 people worldwide.? (Diagnosed With Cystic Fibrosis, Cystic Fibrosis Foundation) Someone who has Cystic Fibrosis have a defective gene from each parent which produces faulty protein. The CFTR gene is the gene that is mutated causing this. The channel that transports chloride in and out of cells is created by instructions that are created by CFTR gene. The regulation of chloride ions and water are prevented creating the thick mucus formed on the passageways of lungs, pancreas, and other organs. Cystic Fibrosis doesn?t cause learning problems are mobility of the person. Babies with this still develop and grow up normally. The average life expectancy is close to 40 years, and has been increasing in the last fifty years thanks to improved care. ?Chronic coughing, recurring chest colds, wheezing, shortness of breath, frequent sinus infections, and allergies that last all year, are the most common symptoms of Cystic Fibrosis.? (Cystic Fibrosis Symptoms) Since this disease is progressive

This mucus build up also causes wheezing and difficulty breathing. Recently, it has become more common for individuals with cystic fibrosis to receive lung transplants during the end stages of lung disease. As mentioned, the symptoms of cystic fibrosis are life threatening, and the majority of deaths are the result of respiratory failure after battling lung diseases and infections that come as a result of the mucus build up. The life expectancy for an individual with cystic fibrosis ranges in the mid-thirties. Another symptom that comes as a result of cystic fibrosis is digestive issues. The thick mucus that affects the respiratory tract also often blocks the tubes that are crucial to digestion because they carry digestive enzymes. Without these digestive enzymes being transported to the small intestine, individuals with cystic fibrosis cannot fully absorb the nutrients they eat. These digestive issues lead to reduced weight gain and growth in individuals with cystic fibrosis as well as severe constipation. In some cases, the large intestine may begin to protrude, a symptom referred to as rectal prolapse, and may need to

Cystic Fibrosis (CF) is a common genetic disorder that affects the exocrine gland in the lungs, liver, pancreas, and intestines causing progressive disability due to multisystem failure. It is also known as “mucoviscidosis because of the mucus that builds up and blocks the respiratory system and pancreas”(Bedwell). Cystic Fibrosis affects the cells that produce mucus, sweat, and digestive juices. It causes these fluids to become thick and sticky. With them becoming so thick and sticky they can plug up tubes, duct, and passageways. Unfortunately, there is no real cure for Cystic Fibrosis. “Although, the new developments in treatment and management, the 50 percent survival rate from the 1970’s has greatly improved, allowing patients to continue to live their lives longer than ever expected in the past. New developments in prevention of exacerbations, therapy drugs and methods to preserve

While the buildup of mucus on the lungs doesn’t allow the person to breathe as well, the buildup of mucus in the pancreas doesn’t allow the release of digestive enzymes that help the body break down food and absorb nutrients. There are many symptoms that come along with Cystic Fibrosis. The main symptom of Cystic Fibrosis is wheezing and shortness of breaths along with always having some type of lung infection

Those who are affected with cystic fibrosis have a higher than normal concentration of salt in their sweat. When parents kiss their child, they can taste the salt on their child’s skin. Other signs and symptoms of cystic fibrosis are reflected on the respiratory system or the digestive

The symptoms of cystic fibrosis are salty-tasting skin, persistent coughing (sometimes with phlegm), Lung infections that are frequent, shortness of breath, constipation, and male infertility. Some examples of lung infections are pneumonia and bronchitis. If you have Cystic Fibrosis, you’re mucus becomes sticky and thick, and blocks your airways and becomes built up in your lungs. All of the extra mucus build up makes it much easier

Minimizing contact with germs is a top concern for people with CF. The buildup of mucus in the pancreas can also stop the absorption of food and key nutrients, resulting in malnutrition and poor growth. In the liver, the thick mucus can block the bile duct, causing liver disease. In men, CF can affect their ability to have children. Most people diagnosed with cystic fibrosis today are babies, thanks tonewborn screening programs. More than 75% of children with cystic fibrosis get a diagnosis by age 2. In some cases, people don’t find out they have cystic fibrosis until they’re teens or adults. Parents can also test their babies for cystic fibrosis before they’re born. Cystic fibrosis is a serious disease that can be life-threatening. But it’s different for everyone. Symptoms are mild for some people and severe for others. The good news is that most people with cystic fibrosis now live twice as long as they did 30 years ago. Today, some people are living into their 40s, 50s, or longer. Cystic fibrosis has no

Cystic fibrosis, also known as mucoviscidosis, is a genetic disorder that affects mostly the lungs but also the pancreas, liver, kidneys, and intestines. Some symptoms are difficulty breathing and coughing up mucus as a result of frequent lung infections. Other signs and symptoms include sinus infections, poor growth, fatty stool, clubbing of the finger and toes, and infertility in males among others. Different people may have different stages of the symptoms. In the lungs the mucus stops the air ways up with bacteria leading to lung damage or maybe even respiratory failure. There is also more major symptoms like very salty tasting skin, pneumonia or bronchitis.

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.

A person can present with accumulation of viscid mucus, which is followed by obstruction and stasis. Someone might have an airway obstruction or frequent bronchial infections with resistant strains of bacteria result. Recurrent cough, production of thick, tenacious sputum can also be some more symptoms. Cystic Fibrosis has many respiratory features including hemoptysis, pneumothorax, and respiratory failure if the disease is progressive. Cystic Fibrosis can be demonstrated by elevated sodium and chloride concentration in one’s sweat. An abnormal sodium of chloride concentration can and will confirm a diagnosis of Cystic Fibrosis. One example of an abnormal level would be 60 mEq/L. Most cases of Cystic Fibrosis are diagnosed early in childhood. In about one out of every five of all Cystic Fibrosis cases do not get diagnosed or detected before the age of fifteen. Those who do not get diagnosed early in their childhood present with recurrent bronchopulmonary infections, airflow obstructions, and digital

Cystic Fibrosis is a life-threatening disorder of the lungs. This condition is hereditary and affects the cells that produce mucus and digestive juices. Instead of acting as a lubricant, these secretions become thick and slimy due to a defective gene and its protein product. The thick substances block the tubes, ducts, and passageways of the pancreas and lungs. Those suffering from cystic fibrosis have difficulty breathing and frequently develop lung infections. Many also develop diabetes due to natural enzymes being stopped from helping the body break down food and absorb vital nutrients. There are no known cures for cystic fibrosis; however, there are many treatments