Common Genetic Disorders: Cystic Fibrosis

Cystic Fibrosis (CF) is a genetic disorder in which mucus glands produce abnormally thick secretions. These secretions can lead to chronic infections of the lungs and eventually lead to obstruction of the pancreas, resulting in digestive enzyme deficiency, the liver is also sometimes affected. Secretions from the sweat and salivary glands of a CF patient frequently contain abnormally high amounts of sodium and chloride. Because the body produces a high amount of salt, a sweat test is generally used to diagnose the disorder.

Cystic Fibrosis is a genetic disease that causes the body’s lungs to generate a different type of mucus than a non-infected body would. The contaminated lungs will produce mucus that is thick and adhesive which clogs the lungs and leads to an unpleasant and abhorrent lung infection. CF also interferes with the pancreas, disallowing the digestive enzymes from breaking down and absorbing food in the intestine. This can result in low nutrition, feeble growth, excessive sweat production, difficulties in breathing, and sometimes lung disease. When producing extra sweat and mucus, the body loses salt. If too much salt is lost, it can cause abnormal heart rhythms, disturbance of minerals in the blood, and perhaps, shock.

Five year old Ellis Miles undergoes numerous treatments each day to counteract the symptoms that accompany cystic fibrosis including physiotherapy, pills containing digestive enzymes, and a treatment which breaks up the mucus in her lungs. Cystic Fibrosis has numerous life threatening symptoms and while there is no cure, there are several treatments that a typical patient undergoes each day to combat these symptoms. The most prominent symptom associated with Cystic Fibrosis is a thick mucus that clogs up tubes that carry out crucial roles in the human body. This mucus especially affects the respiratory tract. Mucus builds up in the respiratory tract making it difficult for individuals with cystic fibrosis to have a frequent cough that produces a thick

​Cystic fibrosis is a disease that is continually affecting children and adults in the United States. This is an inherited and life-threatening disease which affects many organs in the body. According to the Center for Disease Control, there are an estimated 30,000 people affected by this disease today. There are also approximately 2,500 babies born each year with Cystic fibrosis and unfortunately there are millions of people unaware they even carry the gene for this disease.

Cystic Fibrosis (CF) also knows as (mucoviscidosis) is a single-gene disorders. This disorder is best described as an autosomal recessive of the exocrine glands. The disorder itself can be categorized as either pus- forming or hindering airflow. The responsible gene for this pulmonary disorder has been discovered to the be on the long part of the arm of chromosome 7 (Copstead & Banasik, 2013). Major signs and symptoms of CF will be associated with the gastrointestinal and respiratory system. We are able to diagnose CF though laboratory testing such as arterial blood measurements. Treatments for CF tend to be comprehensive including specialty physicians, nutritionists, physical and respiratory therapists and genetic counselors. Medicare

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

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,

Can you imagine struggling and gasping for air for an everyday normal? It all ended for her in the year of 1988. More than 30,000 Americans are diagnosed with it a year. Leslie Adelynn Lacey, a young girl from the small town of Kosciusko, Mississippi, was diagnosed with cystic fibrosis when she was only six months old. Cystic Fibrosis, (CF) is an inherited life-threatening disorder that damages the lungs and digestive system. Mucus builds up in the lungs and blocks the person’s airway, causing this person to have trouble breathing regularly. CF is a genetic disease, meaning that a person does not catch it, it is passed down through DNA. Cystic Fibrosis last with a person his or her entire life time. It occurs throughout the world in every race and ethnicity. There is absolutely no way to prevent a person from contracting CF. Lifespan expectancy is usually 21 for a patient diagnosed. Even though there is no cure for cystic fibrosis, the advancements in learning about the condition, genetics and therapy are a working progress throughout medical experts, and maybe, one day there will be a cure.

Cystic fibrosis is life threatening, progressive and genetic disorders that cause severe damage to the lungs and digestive systems. About 30,000 children’s and adults in the United States are affected by this chronic disease. Cystic fibrosis is an inherited condition which affects the body’s exocrine glands (mucus secretion glands). The secreted fluids such as mucus, sweat and digestive juices are normally thin and slippery. The secretions become thick and sticky in those people who are affected by cystic fibrosis. So the secretions plug up tubes, ducts, and passageways instead of acting as a lubricant. Therefore it is a life threatening disease since the secretions block the passageways especially in the lungs and pancreas. People with this disease are able to attend school and work but they require daily care. The treatments for this disease are getting better but there is no cure for this disease. The life spans of patients are 20s and 30s and some patients live up to their 40s and 50s. There is 25 percent chance of developing cystic fibrosis; if both the parents carry recessive gene but they do not have the disease. A 50 percent chance is there that the child will carry the gene but do not have the disease. And there is 25 percent chance that the child can be totally unaffected for the children of the couple who carry recessive gene.

What is Cystic Fibrosis? Dr. Polit describes Cystic Fibrosis, also referred to as CF, the most common fatal recessive genetic disease among white people. It is a hereditary disorder, also known as mucoviscidosis, which disturbs the lungs, as well as the digestive system, by blockage due to the creation of abnormally thick mucus. According to the U.S. National Library of Medicine, “This abnormal mucus can clog the airways, leading to severe problems with breathing and bacterial infections in the lungs. These infections cause chronic coughing, wheezing, and inflammation”. Due to the buildup and infections, scar tissue forms as well as lung cysts causing permanent lung damage. It is also very common for those with cystic fibrosis to suffer from digestive problems because of the blockages caused by thick, sticky mucus in the body.

Cystic Fibrosis, otherwise known as CF, is an inherited genetic disease that affects the lungs and digestive system. The disease causes a build-up of thick mucus in the lungs and other organs. Mucus clogs the airways in the lungs and “traps bacteria, leading to infections, extensive lung damage, and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients.” (#1)

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 is an inherited disease that ultimately leads to death. It affects every racial group worldwide, but its prevalence varies from country to country. In those with cystic fibrosis, the lungs and digestive system are primarily affected by the disease. With 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. The new developments in prevention of exacerbations, therapy drugs and methods to preserve lung function have done great things to help patients extend their lives.

Cystic fibrosis, also known as CF, affects over 30,000 children and adults world-wide. CF is a disease in the lungs and digestive system and is still incurable today. It is a disease that causes thick, abnormal mucus in the lungs, nasal polyps, fatigue, and can also damage organs in a person’s body. According to www.cff.org/aboutcf, over 70% of CF patients are diagnosed at two years of age. Cystic fibrosis is one of the most life-threatening diseases in the United States and is very common amongst chronic diseases. Cystic fibrosis is most commonly diagnosed in young children and sometimes adults.

Cystic fibrosis is a autosomal recessive inherited disease that affects many organ systems. Over time the outcome for patients with the disease has improved drastically. The life expectancy for patients has increased to 37 years old, compared to 31 years old (O’ Sullivan, 2009). Researchers have reviewed the etiology, pathogenesis and clinical manifestations for cystic fibrosis.