Cystic fibrosis is now recognized as the most common lethal genetic disease in the caucasian population, with an estimated 30,000 patients in the united states and 27,000 in europe. Sponsored links displaying powerpoint presentation on cystic fibrosis school of medicine available to view or download. It is arguably best provided by a qualified dietitian and nutritional care sister working in conjunction with the rest of the cystic fibrosis team. Introduction to cystic fibrosis, 6th edition cystic fibrosis foundation. The video is available to view on the wgbh website the link is at the top of the worksheet. May 15, 2020 cystic fibrosis cf symptoms can develop soon after birth and may include saltytasting skin, greasy and bulky stools, chronic breathing problems, and poor growth because the genetic disease interferes with the flow of water and salt in out and out of cells, it causes thickening of mucus that not only clogs the lungs but prevents the pancreas, intestines, liver, and heart from functioning no. Cystic fibrosis china pdf ppt case reports symptoms. Pdf cystic fibrosis is an autosomal recessive, monogenetic disorder caused by mutations in the cystic fibrosis. Cystic fibrosis is the lethal inherited disease that effects lungs pancreas sweat glands characterized by the production of abnormally viscous mucus by the affected glands fibrous scar tissue develops in the pancreas. For the determination of cftr genotypes only alleles with known mutations were analyzed. Cystic fibrosis and the effects on the pancreas by jon obert what is cystic fibrosis it is an genetic disease that is caused by a deletion of three base pairs on chromosome 7. This case is representative of an early presentation of an infant with cystic fibrosis with. Cystic fibrosis cf was first formally described in 1938 by the pathologist dorothy andersen, who recognized a number of patients with. Fibrosis cystic intestinal abnormality hepatobiliary disease meconium ileus 1520% of newborn with cf distal intestinal obstruction syndrome dios intussusception rectal prolapse volvulus atresia meconium peritonitis steatorrhea focal biliary cirrhosis multilobular cirrhosis pancreatic endocrine dysfunction cystic fibrosis related diabetes.
Cystic fibrosis cf is the most common, lifeshortening genetic disease in. Cystic fibrosis is the result of a genetic mutation in an ion channel that normally regulates salt transport in cells, primarily in the lungs and pancreas. Browse our topics with resources related to cystic fibrosis, such social security benefits, filing your taxes, counselling or financialtravel assistance. In people with cf, a defective gene causes a thick, buildup of mucus in the lungs, pancreas and other organs. Oral health and related factors in cystic fibrosis and. Click the download link below to open or save to your computer. A genetic defect in the cystic fibrosis transmembrane conductance regulator cftr protein disrupts. It is an autosomal recessive disorder whichmeans that a person must receive two altered cfgenes in order to get this condition. Parents need help adjusting to the diagnosis of cf and accessing the best medical treatment available for their child. Learn more about its causes, symptoms, and treatment. Cystic fibrosis causes the sweat glands to produce sweat that has an abnormally high salt content. Eal cystic fibrosis guideline presentation powerpoint.
Because the genetic disease interferes with the flow of water and salt in out and out of cells, it causes thickening of mucus that not only clogs the lungs but prevents the pancreas, intestines, liver, and heart from functioning. Section 1 gives background information on the symptoms of cf and the causes. Cf is most common among caucasians of northern european descent, with a disease prevalence of 1 in 3,000 births, and the frequency of being a carrier of a. Definition cystic fibrosis cf is an inherited disease that affects the lungs, digestive system, sweat glands, and male fertility.
Cystic fibrosis cf was first formally described in 1938 by the pathologist dorothy andersen, who recognized a number of patients with characteristic lesions of the pancreas and a clinical syndrome of failure to thrive, diarrhea, and recurrent respiratory infections. However, cf was recognized in european folklore hundreds of years earlier, and anticipated the sweat electrolyte abnormalities. An individual must inherit a defective copy of the cf gene one from each parent to have cf. Then the cftr genotypes of the cf patients were subdivided into two groups. Cystic fibrosis symptoms may be alleviated by vitamin e supplements1, natural rock salt brine or sole. Since 1989, we have funded more than 300 projects valued at. The exocrine glands like those secreting sweat, mucus, digestive fluids, etc are mainly affected. However, patients benefit greatly from links with and access to local care. This 49slide powerpoint presentation includes the recommendations and ratings for the eals 2020 cystic fibrosis guideline and is ready for you to use for meetings, inservice presentations and classes.
Cystic fibrosis is the most common autosomal recessive disorder in white people, with a frequency of about 1 in 2500 livebirths. Relationship of clinical features to residual cftr function. Cystic fibrosis cf symptoms can develop soon after birth and may include saltytasting skin, greasy and bulky stools, chronic breathing problems, and poor growth. This product is not designed for the consumer and is only available as a download. Khan academy is a nonprofit with the mission of providing a free, worldclass education for anyone, anywhere.
Ppt cystic fibrosis treating cystic fibrosis cf gene. Download cystic fibrosis school of medicine ppt for free. The high salt content in perspiration is the basis for the sweat test, which is the definitive diagnostic test for the presence of cystic fibrosis. Cystic fibrosis, inherited metabolic disorder, the chief symptom of which is a thick, sticky mucus that clogs the respiratory tract and the gastrointestinal tract. Cystic fibrosis is the commonest inherited disease in white populations, with an. Vitamin d deficiency is a common finding in individuals with cystic fibrosis cf, despite routine supplementation. This fast fact discusses the natural history of cf and issues related to palliative care for patients with cf. Abnormally thick mucus and salty sweat is produced which are the main cause of other symptoms in cystic fibrosis. Cystic fibrosis is a genetic condition affecting one baby born every four days. Go to the web address listed above or go to gene therapy.
Microsofts free reader application, or a booksized computer this is used solely as a. Browse our resources relating to cystic fibrosis, such as social security benefits, filing your taxes, counselling or financialtravel assistance. This causes clogs in the digestive system and airway to the lungs as well as many other problems. Cystic fibrosis cf is the most common lifeshortening autosomal. Learn about cystic fibrosis, a genetic disorder that affects the lungs, pancreas, and other organs, and how to treat and live with this chronic disease. Ppt cystic fibrosis powerpoint presentation free to view. Cystic fibrosis medical powerpoint presentation youtube.
Cystic fibrosis case study link under the bartal web page. Clinical features cystic fibrosis is a heterogeneous recessive genetic disorder with features that reflect mutations in the cystic fibrosis transmembrane conductance regulator cftr gene. Expression and distribution of cystic fibrosis transmembrane. Cystic fibrosis cf is a complex disease affecting epithelial ion transport. Cystic fibrosis powerpoint cysticfibrosis ashleyslowikowski. Ppt cystic fibrosis powerpoint presentation free to. Constipation in pediatric cystic fibrosis patients. Identify the clinical and diagnostic presentation of cystic fibrosis 4. Mutations associated with cystic fibrosis can be detected in screening tests. Cystic fibrosis is a lifethreatening, genetic disease that causes persistent lung infections and progressively limits the ability to breathe. In cystic fibrosis the body cells are affected and they produce secretions that are thicker and stickier than usual.
Cystic fibrosis cf is an autosomal recessive disease that caused by mutations in the cystic fibrosis transmembrane conductance regulator cftr gene. Cystic fibrosis is a hereditary disease that affects the lungs and digestive system. The slides dont have any watermarks or names or them, so feel free to use them however you want. Hypovitaminosis d is often the result of fat malabsorption, but other contributors include increased latitude, poor nutritional intake, decreased sun exposure, impaired hydroxylation of vitamin d, and nonadherence to the prescribed vitamin d regimen. Cystic fibrosis cystic fibrosis posted 112904 key points cystic fibrosis cf is caused by mutations in the cftr gene and is inherited in autosomal recessive manner. A free powerpoint ppt presentation displayed as a flash slide show on id. Khan academy is a nonprofit with the mission of providing a free, worldclass. Vitamin d deficiency and its treatment in cystic fibrosis. Cystic fibrosis is an autosomal recessive, monogenetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator cftr gene. Cysticfibrosis ashleyslowikowski,raychel smithson,jordanbrcic,and brianaaskew.
Cystic fibrosis is an autosomal recessive disorder that affects epithelial cells of. There is a connection between good nutrition and good lung function. Most common lethal inherited disease in white persons, typically presents in childhood 7% of cf patients diagnosed as adults classic cystic fibrosis is characterized by chronic bacterial. Nutritional support is an integral part of the management of cystic fibrosis patients.
The resource list in appendix b can direct you to additional. Although it can affect many organ system, cf is particularly damaging to the lungs, leading. The point is, cystic fibrosis shows up in so many ways throughout the body and going back to the name, why do we call it cystic fibrosis, this is describing the scarring that occurs in the pancreas as a result of the disease, you have these cysts then you have scarring from all the blockage and the damage to the tissue that leads to. Cystic fibrosis is a disorder that causes the protective mucus around your organs to be extra thick and sticky. One examiner an undertook oral examinations to assess dental caries, periodontal health, and enamel defects in children attending respiratory outpatient clinics. Cystic fibrosis also known as cf or mucoviscidosis is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine. C ystic fibrosis cf is an autosomal recessive disorder of the cystic fibrosis transmembrane regulator cftr that affects the respiratory tract, pancreas, intestines, male genital tract, hepatobiliary system, and exocrine sweat glands resulting in multisystem disease. It is known to be present in epithelial cells of the lungs, pancreas, sweat glands, gut, and other tissues, and gene mutations of cftr cause cystic fibrosis cf. Learn for free about math, art, computer programming, economics, physics, chemistry, biology, medicine, finance, history, and more. Of the 22,300 individuals currently identified with cystic fibrosis cf, nearly 4% were identified after the age of 18 4.
Cf is characterized by abnormally thick mucus, with symptoms such as meconium ileus, pancreatic. Persistent highintensity inflammation leads to permanent structural damage of the cf airways and impaired lung function that eventually results in. Lung disease is the major cause of morbidity and mortality in patients with cystic fibrosis cf. Cystic fibrosis fully editable, science reading activity disciplinary literacy for grades 57 ages 1012 as well as older students with lower developed learning levels. Cystic fibrosis, diabetes link explained sciencedaily.
View notes cystic fibrosis powerpoint from biol 109 at old dominion university. Dec 23, 2012 cystic fibrosis medical powerpoint presentation medicaldump. The complexity of the disease is due to mutations in the cftr protein, now known to be a cl channel and a regulator of other transport proteins. Care clients with respiratory disorder cystic fibrosis. T he cystic fibrosis transmembrane conductance regulator cftr gene was first discovered in 1989 kerem et al. Although cf lung disease is primarily an infectious disorder, the associated inflammation is both intense and ineffective at clearing pathogens.
Feb 26, 2019 cystic fibrosis is a hereditary disease that affects the production of mucus in the body. Discovery of the mutated gene encoding a defective chloride channel in epithelial cellsnamed cystic fibrosis transmembrane conductance regulator cftrhas improved our understanding of the disorders pathophysiology and has aided diagnosis, but has shown the. Cystic fibrosis transmembrane conductance regulator. Scribd is the worlds largest social reading and publishing site. Mutation of the cftr gene causes cystic fibrosis cf, which is one of the most common lethal genetic diseases in the caucasian population. Introduction cystic fibrosis is a genetic disorder that mainly affects the digestive systems and lungs. Jan 11, 2018 cystic fibrosis is a hereditary disease that affects the lungs and digestive system. A diverse microbiota exists within the airways of individuals with noncystic fibrosis bronchiectasis ncfb.
Presentation and management of cystic fibrosis respiratory. Symptoms, causes and treatment mucoviscidosis, which is also referred to as cystic fibrosis cf is a congenital disease wherein the lungs, intestines, and the pancreas become clogged with thick mucus due to damage to the cells that produce saliva, sweat, mucus, and digestive juices. Cysticfibrosis ashleyslowikowski,raychel smithson,jordanbrcic,and brianaaskew symptoms. Cystic fibrosis transmembrane regulator pharmacotherapy stimulation of alternative chloride channels inhibition of sodium absorption airway rehydration summary since the detection of the underlying gene defect, our knowledge of how the genetic mutations in cystic fibrosis cause lung disease has increased substantially, but we still lack a.
Oral health and related factors in cystic fibrosis and other. This deletion causes a mutation in the cystic fibrosis transmembrane conductance regulator protein cftr, which is responsible for transporting chloride into and out of. These tests are effective in the identification of adult carriers. To compare the prevalence of dental caries, dental calculus, and enamel defects in children with cystic fibrosis cf and children with other chronic respiratory disorders. Cystic fibrosis cystic fibrosis is an inherited disease that causes thick, sticky mucus to build up in the lungs and digestive tract.
Studies of cystic fibrosis knockout mice, generated by gene targeting, together with genotypephenotype analysis of human cystic fibrosis subjects, have provided some of the best evidence that it is the loss of cftrmediated epithelial chloride conductance that is primarily responsible for cystic fibrosis disease. Cystic fibrosis ppt free download as powerpoint presentation. The body produces thick and sticky mucus that can clog the lungs and obstruct the pancreas. The importance of the molecule cystic fibrosis transmembrane conductance regulator cftr is reflected in the many physiological functions it regulates. Cystic fibrosis by andrew hall history first described as a disease in the 1930 s ccff 2007 during this period, cf was only usually recognized after the child. We are passionate about advocating for immediate access to the latest treatments. Cystic fibrosis cf is a disease of exocrine gland dysfunction caused by genetic mutation on chromosome 7, which results in abnormalities in the production andor function of protein called. There are not many diseases like cf that have triggered such intense research activities. Cystic fibrosis medical powerpoint presentation medicaldump. The various interactions and the large number of diseasecausing cftr mutations. Cystic fibrosis is an autosomal recessive disorder that affects epithelial cells of the respiratory, gastrointestinal and reproductive tracts and leads to abnormal exocrine gland secretions.