Cystic Fibrosis : An Overview

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

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

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 recessive gene which means the disorder won’t affect anyone that’s a carrier. To obtain Cystic Fibrosis there are two ways, either, one parent is a carrier and the other has it (provided the parent with Cystic Fibrosis is female), or both parents are carriers. Parents can find out if they are carriers for Cystic Fibrosis with the use of genetic testing. When both parents are carriers for Cystic Fibrosis there a 25% chance the child will have Cystic Fibrosis, a 50% the child will be a carrier, and a 25% chance the child will not have Cystic Fibrosis nor be a carrier for it. In the United States there is about 30,000 reported cases of children and adults with Cystic Fibrosis, in the US there is an additional 1,000 cases reported each year, worldwide around 70,000 children and adults have Cystic Fibrosis. Cystic Fibrosis is the most common

Cystic fibrosis is known to be one of the most common and deadly diseases in Caucasians, affecting 1 in 2500 children. This percentage results in 30,000 individuals within the United States to be diagnosed with CF. There are over 1900 mutations of this gene that cause a wide variety of severities within this disease. (McCance, Huether, Brashers, & Rote, 2010) Due to its complex mutation and unknown cause, only treating the symptoms of CF have been the main treatment protocol to this disease. Current treatments are cumbersome and expensive providing patients with life expectancy only into their twenties, but usually younger in most cases. There has been specific progress towards a cure involving gene therapy providing hope for a cure to

The type of mutation that causes Cystic Fibrosis occurs in the CFTR gene, or Cystic Fibrosis Transmembrane Conductance Regulator gene. This gene is important to the body because it helps provide channels that transport negatively charged particles (chloride ions) in and out of the cell. Chloride has an important role in the human body by how it controls the movement of water in tissue, which allows mucus to become thin. Mutations in the CFTR gene interrupts the function of the chloride channels. It makes the regulating process of the flow of chloride ions and water across the cell membranes not happen. This causes passageways to produce mucus that is very thick. The thick mucus causes these passageways to clog, and trap

CF occurs through the inheritance of a loss-of-function mutation in the gene that encodes for the CF transmembrane conductance regulator (CFTR) membrane protein (2). This protein is a transporter responsible for actively transporting chloride ions and sodium ions, which in turn regulate osmotic balance (2). Mutations in CFTR affect the water-driving force in the epithelial surfaces lining the gastrointestinal tract and pancreas (2). This results in viscous and sticky mucus secretions which build on the epithelial surfaces (2). This environment causes patients with CF to be susceptible to

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.

The mechanism of cystic fibrosis; simply put is the physical blockage of chloride ions as a result of a defective gene located in the long arm of chromosome 7 at region q31-q32 [figure 2.]. This gene is responsible the exocrine gland function involving multiple organ systems, primarily the respiratory system, gastrointestinal (GI) tract and reproductive system. With the faulty CFTR gene, the epithelial cells in the body cannot channel chloride ions across the membrane [figure 3.] and affecting the cells ability to properly regulate sodium and water, as they are closely related. The water is needed to produce a healthy, thin layer of mucus that protects against infection and keeps the membrane moist. This mucus builds up in the lungs, pancreas and liver mostly, creating harsh breathing conditions for the patient and a lack of digestive enzymes and bile for breaking down nutrients and in some cases lower than normal insulin

Cystic fibrosis also known as CF is a rare life threatening genetic disorder. CF causes individuals with this disorder to have persistent lung infections, in turn limiting their breathing. Individuals with cystic fibrosis, have a mutated gene that causes a thick, build-up of mucus in the lungs. Generally, it affects many of the body’s organ systems and is only found in about 200,000 people per year in the United States. Cystic fibrosis is the most widely recognized, life-shortening hereditary sickness in Caucasians. It influences the vehicle of salt and water crosswise over cells and influences distinctive organs, yet lung infection is in charge of the dominant part of manifestations, weight of care, and lost years of life. The quality that causes the sickness has now been recognized and sequenced. (Junge et al., 2016)

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

Cystic Fibrosis is a fatal recessive genetic disease that effects the exocrine system, resulting in malfunction and abnormal secretions of the respiratory and digestive systems. The exocrine system is responsible for secreting substance from the salivary glands, sweat glands, and gastrointestinal glands. In a person, not suffering with CF, secretions are clear and thin allowing for easy passage of these secretions through various glands and ducts in the body, however, those suffering with CF produce thick secretions that cause chronic obstruction. The respiratory system is the most commonly affected body system. This causes recurrent pneumonia and atelectasis which leads to progressive lung deterioration. “The diagnosis of CF is usually

Cystic Fibrosis (CF) is an autosomal recessive gene that causes a wide range of symptoms because there are over 1,000 changes or mutations that can occur within the cystic fibrosis transmembrane receptor (CFTR) protein. The CFTR protein is generally a chloride ion chain “regulated by cyclic adenosine monophosphate and therefore can act as a regulator of other electrolyte channels”(Grossman, S., & Grossman, L. 2005, p. 46). Typically this protein allows chloride ions to exit mucus-producing cells allowing water to flow in and thin the mucus. However, if the CFTR protein has been mutated, such as in cystic fibrosis, chloride ions cannot exit. This causes the mucus to thicken, become sticky, and obstruct the various channels it passes through. This build up of mucus also prevents bacteria from being cleaned from cells thoroughly increasing the patients risk for infections (Grossman, S., & Grossman, L. 2005). However, the severity of CF depends on whether the patients have complete or partial loss of the CFTR gene. If the person has the classic form of CF abnormalities of CFTR will commonly affect “…the respiratory, gastrointestinal, endocrine and metabolic, and genitourinary systems”(Schram, C. 2012). However, if people have atypical forms of CF their genetic disorder may only affect one of the organ systems and may not be found until the patient develops symptoms in their late childhood, early adolescence, or adulthood

Cystic fibrosis (CF) is an autosomal recessively inherited condition that affects approximately 9000 patients in the UK (Rowe et al, 2005). CF is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (Rowe et al, 2005), resulting in deficiencies in normal ion transport across cell membranes (Mall and Boucher, 2014). Abnormal ion transport causes the sputum to become dehydrated and more viscous (Mall and Boucher, 2014), leading to the airways becoming blocked and a reduction in the efficacy of the mucocilliary escalator at clearing sputum (Cystic Fibrosis Trust, 2011). This can result in the patient’s symptoms of breathlessness and recurrent infections as the sputum

This is a great improvement over survival rate of the 1950s with the life expectancy of 1 year or less for cystic fibrosis patients. Unfortunately, since it is a recessive genetic disease, there are many men and women who are carriers of the disease without actually having the disease themselves. If each parent is a non-affected carrier of cystic fibrosis, there is only a 25 percent chance of having a non-affected, non-carrier child and 50 percent chance of having a child that is a non-affected carrier of cystic fibrosis. Unfortunately there is also a 25 percent chance of having a child affected by cystic fibrosis. This makes prenatal genetic screening very important.