An Autosomal Recessive Genetic Disorder

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 (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 an inherited disorder that causes severe damage to the lungs and digestive system. This disorder is among over 70,000 people worldwide, and about 30,000 just in the United States alone. Nearly half of the Cystic Fibrosis population is age 18 or older, and are normally diagnosed by age 2. Though Cystic fibrosis is a complex disease and the types and severity of symptoms can differ widely from person to person. Many different factors, such as age of diagnosis, can affect an individual's health and the course of the disease. Today the median survival age for having this disorder is close to 40 years old. To most that might seem very young, but this is a huge improvement from what it was in past years. New advances in technology makes it possible for people with this disorder to

​Cystic fibrosis is an inherited, chronic disease of the secretory glands which directly affects the lungs and digestive system (NLM, 2015). To look more closely at a cellular level, there is a defective gene in which their protein product that regulates movement of sodium

Target population is the general public, anyone suffering from this condition, or for someone that know of a relative or a friend who is suffering from CF.

Improvements with treatments and screenings, those affected with cystic fibrosis now live well into their 20s and 30s, and some are living to their 40s and 50s.

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.

Most of the people diagnosed with CF are usually in the age of 2. The predicted age most people with CF is at age 40. 97-98% of men with CF can not have children because of congenital bilateral absence of the vas deferens. Most of the people with CF, there parents had to be carriers and they gave their children the disease. For example if 2 carriers had a baby the chances of the baby having CF is, ¼ will not have CF, ½ will be a carrier, ¼ will not be carriers or infected. Symptoms of CF vary with each person. Some usually the symptoms are coughing, lung infections, inability to gain weight and, fatty stools. Lung infections are when the bronchial tube gets inflated. It is really rare to get CF it can either last 1 year or it can be for life. If you would want to know if you have it, it requires a medical

Doctors can then confirm the diagnosis by using what is called a “sweat test.” A sweat test measures the amount of salt that is in the sweat. Doctors will trigger the sweat on a small patch of skin on the arm or leg (MFMER, 2016). Other tests consist of a chest x-ray, lung function tests, or a spit test. There is many treatments that a doctor can do to help lessen the symptoms of CF, but at this point there is no treatment that can cure you from CF. The sooner you catch these symptoms and try to counteract them with treatments the better off you are. Newborn screening helps with early diagnosis. There’s medications such as antibiotics that treat and prevent lung infections. Doctors also use anti inflammatory medications to lessen swellness for airways to the lungs. Patients diagnosed with CF can inhale medications such as mucus thinning drugs to keep their muscles loose. (Diagnosed, 2016). Lastly, there is chest physical therapy, vest therapy, surgery, and other procedures. Doctors are continuing to try to find a cure to CF, but as of right now there is none. New data, research, and technology is helping reduce the amount of people devastated by this

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 disorder affecting approximately 30,000 U.S. citizens. Although this genetic disorder can affect anyone, whites tend to be at a greater risk of developing this disease. Also males and females seem to have an equal risk of developing cystic fibrosis (Gardner, 2007). Cystic fibrosis is passed onto offspring by a recessive mode of inheritance. After extensive analysis it is believed that there is a single cystic fibrosis locus located on human chromosome seven. Considering a multitude of data and factors such as tissue specificity and the predicted properties of the Cystic Fibrosis Transmembrane Conductance Regulator(CFTR) protein, it is theorized that CFTR is the direct cause of cystic

In the respiratory system, the mucus causes breathing difficulties, frequent respiratory infections and eventually permanent lung damage. The mucus builds up providing bacteria with a place to flourish. The most common infection comes from a bacterium called Pseudomonas aeruginosa. The body's response to P. aeruginosa includes inflammation, which causes episodes of intense breathing problems (Pseudomonas Genome Project, 1998). Normally the body will get rid of excess mucus by coughing before it's a problem but with the thick mucus involved in CF the body has a harder time to get rid of the thicker mucus. Lung disease is the usual cause of death in most patients (National Institutes of Health, 1995). In the digestive system, mucus can block the supply of enzymes used to break down food. The result of the blockage of such enzymes is malnutrition. The patient will have an excessive appetite but will not experience any weight gain. What is also evident is a failure to grow, CF was often misdiagnosed vaguely as "failure to thrive" when physicians didn't know the reason for this poor growth. Sweating is also a problem in people with CF. One of the basic defects in CF is the faulty transport of sodium and chloride (salt). People with CF lose excessive amounts of salt when they sweat. This causes the natural balance of salt in the body to be off balance, which may cause abnormal heart rhythms (National Institutes of Health, 1995).

CF is an autosomal recessive disorder that is predominately found in European decent. It affects various systems in the human body, however, it is the respiratory system that contributes to the high mortality rate due to pulmonary decline. This is due to a mutation in the CFTR gene, depending on what mutational class it falls under can indicate the severity of their clinical outcomes. The lack or complete absence of functionality of the CFTR gene results in mucus accumulation in the airways, which consequently makes them more prone to infections that may hasten their lung deterioration and even endanger their lives. Even though there is no cure for CF a number therapeutic classes are implemented usually in concomitant with each other to delay progression of lung disease and provide symptomatic relief.

Which that needs a healthy way of coughing practices and airway clearance techniques in the lungs. More further, a patient with CF need to take vitamins to treat intestinal blockage. Also, eating high fat food and drinking nutritional drinks helps replacing lost nutrients. However, in some cases a patient may needs to get fed through a tube in the stomach or even he may needs a surgery to a chest tube drainage to treat a collapsed lung. So obviously, a patient needs to take a mix of medicines to control his body and this disease, such as tobramycin, albuterol, hypertonic saline, cromolyn, prednisone, and pancreaze. Where tobramycin works as antibiotic to treat and control infections, and albuterol helps opening the airways in the lung to make it easier to breathe. Hypertonic function is to thin and clear mucus from airways in the lung and intestines. Moreover, cromolyn uses as a factor targets inhabitation of inflaming. Prednisone organizes steroids and fat in the body, and pancreaze uses as a digestive

Cystic Fibrosis is caused by a genetic defect in Chromosome 7. Chromosome 7 encodes the cystic fibrosis transmembrane conductance regulator, also known as CFTR. There are over 1,000 mutations of this gene causing cystic fibrosis, with each mutation manifesting as a different variation of disease onset and clinical presentation. The most common mutation is the loss of phenylalanine residue at deltaF508. The abnormal functioning CFTR causes impaired chloride transport and more viscous secretions. The defect causes dehydrated secretions in the respiratory tract and gastrointestinal tract. Being dehydrated, these secretions become more difficult to move throughout the body. Along with impaired