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A widely accepted Caucasian disease has since changed; as cases of its existence are appearing in the South Asian Population (Orenstein, Rosenstein and Stern, 2000). First discovered in 1989, Cystic Fibrosis (CF) is a genetically predetermined condition, its presences is lifelong and highly complex, which is why many CF sufferers and families develop various mechanisms in order to adapt to the condition (Tippingemail, Scholes, Cox, 2010). Cystic Fibrosis causes the body to develop thick, sticky mucus which clogs the lungs and affects other organs in the body, mainly the pancreas. The layer of mucus if untreated develops in to a chronic infection which can be detrimental. The pancreas of a CF patient is most vulnerable, once the mucus has

The CFTR gene encodes a protein that is present in epithelial tissues in lungs, sweat glands, and pancreas, and helps

For centuries, genetic diseases have raided the planet growing stronger and mutating faster every day. Scientists have been working hard to develop concoctions to reduce the crippling effects of these diseases; if not eradicate the harsh effects of these potentially deadly genetic conditions altogether. Among these numerous life threatening genetic diseases is cystic fibrosis (CF), an inherited lifelong condition that promotes the production of thick sticky mucus causing lung infections from the entrapment of various bacteria such as Pseudomonas aeruginosa.

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

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 caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) which is located in the middle of chromosome 7. The CFTR gene encodes a protein of the same name. This protein functions as a “channel across the membrane of cells that produce mucus, sweat, saliva, tears and digestive enzymes” (Genetics Home Reference, 2015). The channel transports chloride ions which are negatively charged particles, in and out of cells which help in controlling the water movement in tissues to allow for the production of thin, feely flowing mucus, a substance that lubricates and lines the airways, digestive system, reproductive system and other tissues and

The Cystic Fibrosis Gene codes for a protein called cystic fibrosis transmembrane conductance regulator produced in the epheilial cells. The CFTR protein acts as channel in the membrane of cells that produce mucus, sweat, saliva, tears, and digestive system. This channels transport chloride ions in and out of the cell, because the chloride ions help control the movement of water in the tissue of the human body, in a process called diffusion. This process necessary to the production of mucus, mucus is a slippery substance that lubricates and protects the lining of the lung airways, digestive systems, reproductive systems, and organs and tissues. However, when a person inherits mutated CFTR gene,

The cystic fibrosis transmembrane conductance regulator gene is where mutations occur for this disease. The cystic

Cystic fibrosis is a rare, genetic, incurable disease. It affects cells that produce mucus, sweat, and digestive juices, it cause them to be thick and sticky, blocking airways, tubes, ducts, and passageways. The severity of symptoms depends on the person. Common include, cough, shortness of breath, wheezing, exercise intolerance, lung infections(pneumonia and bronchitis), inflamed nasal passages, stuff nose, inability to gain weight and grow, excessive salt in sweat, and foul-smelling, fatty stools, and severe constipation. Diagnostic tests for CF include a screening at birth(blood test), a sweat test(levels of salt), and a genetic test(chromosome 7). Cystic fibrosis is particularly abundant in European-Americans. It is also the most common in the United States. More than 75% of people with CF were diagnosed by age 2. Men and women are both equally affected. Over 30,000 people are living with CF in the United States, and over 70,000 worldwide. Between one and two people die everyday due to cystic fibrosis. The hope is for CF to become less prevalent due to the finding of a cure.

This research paper examines Cystic Fibrosis disease and includes steps and test the best treatments for this disease. However, a scientist knows that treatment does not work for all bodies and different bodies act differently toward these medicines. Where also, researcher and scientist need to ensure what inputs, outputs and impact that may result from any new treatments. Therefore, researchers will be able to compare these results and aspects of CF.

According to the Cystic Fibrosis Foundation, approximately 70,000 people worldwide suffer from cystic fibrosis, 30,000 of which live in the United States. Within the U.S., 1,000 new cases are diagnosed each year and more than 75 percent are diagnosed by the age of two (“About Cystic Fibrosis, n.d.). CF “is an autosomal recessive lung disease that decreases the ability of chloride channels to function properly. This inherited chloride channel defect results in decreased salt levels through sweat loss” (Delaney, 2014, p. 682). This decrease in salt levels “leads to thickened secretions, predominantly in the lung and pancreas, and is characterized by recurrent lung infections, malabsorption of nutrients, intestinal obstruction, liver disease and infertility in males” (Richards, 2008, p.35). Developments in the treatment of CF have increased the median life expectancy for patients with the disease, but with increasing age there becomes “a blockage of the exocrine ducts in the pancreas resulting in a form of diabetes, known as cystic fibrosis-related diabetes (CFRD)” (Richards, 2008, p.35). Of all the possible complications related to cystic fibrosis, CFRD is “the most prevalent co-morbidity” and is associated with increased hospitalization rates, decreased pulmonary function, and weight loss (Delaney, 2014, p.682 and Kelly & Moran, 2013).

This paper is over cystic fibrosis (CF). This is the most common life threatening condition in the white population. In the United States there are about 30,000 people who are living with CF and there are approximately 1,000 new cases diagnosed each year. Nearly half of the CF population is 18 years or older and with new breakthroughs in treatments people with CF are able to live longer lives, with the median age now being 40 years old. CF was first described in the 1930s as a distinct clinical entity, however as early as 1650 there has been several references to infants and children with meconium ileus and characteristics of pancreatic and lung disease. Over the years there are have been many improvements in treatments, but people with CF are not always compliant with their therapies. Mostly because they tend to time consuming. In this paper we will discuss what CF is, the diagnosis, treatment options, and prognosis.

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

Part 2 assessed multiple ascending doses of D9-ivacaftor (75mg, 150mg, and 225mg), each administered daily after a high-fat meal for 7 days, compared to placebo.(68) Results presented during the 39th European Cystic Fibrosis Conference demonstrated improved PK of D9-ivacaftor compared to Kalydeco®, including a 40% increase in half-life (D9-ivacaftor t1/2 of ~15hrs; Kalydeco® t1/2 of ~11hrs), reduced clearance rate (D9-ivacaftor CL/F of 3.8L/hr vs. Kalydeco® CL/F of 13.3L/hr), approximately 3-fold increase in exposure (D9-ivacaftor AUC0-inf of 44,916ng*hr/mL vs. Kalydeco® AUC0-inf of 12,925ng*hr/mL), and approximately 3-fold increase in plasma concentrations at 24-hours (D9-ivacaftor C24hrs of 712ng/mL vs. Kalydeco® C24hrs of 169ng/mL). Data shown here are for 150mg doses of both D9-ivacaftor and Kalydeco®.(14, 26, 77) The improved PK profile of D9-ivacaftor along with a safety profile comparable to that of Kalydeco® has allowed progression of D9-ivacaftor into a phase 2 clinical trial to evaluate its safety and efficacy in CF patients with CFTR gating mutations.(69)

CF patients present a diverse amount of manifestations and degrees of severity, which could initially be attributed to allele heterogeneity (Keren et al, 1990). The CFTR mutations were strongly correlated with exocrine function disturbances and well imputed to hypertonic sweat. Although, CFTR disorder alone could not determinate lung phenotype. The literature describes a strong influence of genetic and non-genetic variations in airway manifestations of CF. Cutting et al’s meta-analysis (Cutting et al. 2016) found that genetic modifiers were responsible for 50% of variations in lung conditions. The remaining portion was mainly attributed to environmental and stochastic influence (see Figure 1). At least 50 encoding genes have been investigated for influencing CF phenotype (Cutting 2015). A list of these genes is beyond the purpose of the present work.