Cystic+Fibrosis

Cystic Fibrosis
**What is cystic fibrosis?** Cystic fibrosis, also known as mucuviscidosis, is a disease in which a mutation within a gene causes abnormally thick mucus and higher chloride levels in sweat and digestive juices. CF, as it is commonly referred to, is caused by the mutation of a gene used in the protein cystic fibrosis transmebrane conductance regulator(CFTCR) There are over a thousand mutations which can affect the CFTCR gene. These mutations normally cause disorders with the supply of water flowing in and out of cells. However, there are only two genetic disorders: congenital bilateral absence of vas deferens and the more widely known cystic fibrosis. This gene is required to control components such as the amount of chloride in sweat, digestive juices and mucus. It creates a protein that controls the ratio of salt to water in sweat. People with CF normally have thick and sticky mucus and higher amounts of chloride in their sweat which causes extremely salty sweat.

**Symptoms** **Overview** General symptoms of cystic fibrosis are salty tasting skin, poor growth and weight gain despite a normal intake of food. Other hallmarks include thick, sticky mucus, frequent lung/chest infections and coughing or shortness of breath. Symptoms identifiable in infancy include the failure to pass feces (meconium ileus). CF sufferers are often not diagnosed until investigations into stunted growth and weight gain are carried out. The causes of poor growth and weight gain is normally attributed towards constant lung infection, poor absorption of nutrients and increased metabolism demand (the need for the speeding up of the chemical process within the body) due to chronic illness.

**Lung and sinus**

“ sinus |ˈsīnəs| noun **1** (often **sinuses**) Anatomy & Zoology a cavity within a bone or other tissue, esp. one in the bones of the face or skull connecting with the nasal cavities. “

Sinus infections and lung disease are one of the most prominent symptoms of CF. Constant coughing, large amounts of phlegm and decreased exercise are symptoms of early lung disease. This is caused by out of control bacteria in the mucus. Later on in the disease, the components of the structure of the lung (such as the bronchi, alveolus etc.) demonstrate difficulties in breathing. As a consequence of the thickened mucus clogging up the nasal cavity, lung disease (symptoms mentioned above), hemoptysis (coughing up blood), pulmonary hypertension (high blood pressure in the lung), heart failure and decreased oxygen supply to the body are all symptoms of CF. Mucus blocking the nasal cavity often leads to infection, pain in the face, fever and headaches. Constant infections can lead to the inflammation of the lining of your nasal cavity (also known as nasal polyps)



//(Diagram showing the effect of the thickened mucus on the lungs and pancreas)//

**Gastrointestinal Symptoms** Newborns with cystic fibrosis often fail to get rid of solid waste (also known as Meconium). The mucus congregating in the lungs in the lungs also affects the thickness of the discharge from the pancreas, an organ which provides digestive juices. These thickened secretions block the exocrine glands (which release or absorb hormones). These glands are completely blocked in older cases, such as adolescents. The damaged pancreas releases less digestive enzymes and consequently, problems absorbing nutrients, a condition known as malabsorption. Some of the consequences of malabsorption are malnutrition, poor growth/development because of edema (excessive water in the cavities of the body). People with CF have problems breaking down fat-soluble vitamins such as A, D, E and K. Thickened mucus may cause liver problems. The bile stored in the liver for the digestive process may be blocked by the bile ducts, resulting to liver damage. Over a long term period, the stored bile may lead to scarring and cirrhosis (the replacement of liver tissue by scar tissue). As a result, the liver is unable to expel toxins from the bloodstream and does not make the proteins which are responsible for the clotting of the blood. Liver failure is the third most common cause of death for individuals with CF.

**Endocrine** Another symptom of CF includes damage to the regions of the pancreas (islets of Langerhans) which secrete insulin, a hormone that controls blood sugar. The loss of the islet cells can lead to a type of diabetes special to individuals with CF. Cystic fibrosis related diabetes (CFRD) shares similarities with Type 1 and Type 2 diabetes. Damage to the pancreas is one of the leading non-pulmonary (relating to the lungs) complications of CF. //**Type 1 diabetes sufferers have elevated amounts of glucose in their blood and urine. Other symptoms include polyuria (frequent urination), polydipsia (increased thirst) and polyphagia (increased hunger) and weight loss. In the long term, Type1 diabetes is fatal unless treated with insulin injections.// //Individuals suffering from Type 2 diabetes have an increased risk of degenerative diseases such as Alzheimer’s and Parkinsons’. **// Thickened secretions damage the pancreas and affect the production of digestive enzymes. This, in turn, results in difficulties absorbing vitamin D is a particular problem as individuals with CF are often prone to osteoporosis, a disease affecting bone density. Osteoporosis will result in weakened bones and and leaves sufferers prone to fractures and breaks. One characteristic of CF stricken individuals is the distinctive clubbing of the fingers and toes. This is a result of constant illness and low oxygen levels in the tissue //(Clubbing of the fingers; note the distinctive swelling and engorgement of the tips of the fingers)//

**Infertility** Over 90% of male CF sufferers are infertile but not sterile. They are able to have children with alternative reproductive techniques. Males suffering from CF are able to produce sperm but are mis sing the tube (vans deferens) which links the testes to the ejaculatory ducts. As a result of malnutrition or thickened mucus in the cervix, women have fertility complications. In extremely severe cases, malnutrition can disrupt the ovulating cycle and cause amenorrhea (complete absence of menstruation in women of reproductive age [From late teens till early forties])

**Management** There is currently no cure for cystic fibrosis. Management of CF mainly focuses on maximizing organ function, promoting an active lifestyle and good nutrition. CF management has improved drastically over the last century: an infant born with CF 70 years ago would have an extremely low chance of surviving into adulthood. However, recent advancements in the management of CF have meant that CF sufferers

**Antibiotics** The most prominent aspect of CF management is treating and limiting the widespread lung damage caused by the thickened secretions. Inhaled, intravenous (antibiotics injected inside veins) and oral antibiotics are used to manage CF and to treat lung infection. Mechanical devices and inhaled antibiotics are used to clear the thickened mucus. However effective these treatments are, they are still extremely time consuming. One of the biggest problems CF patients have is finding the time to do their treatment while simultaneously enjoying a normal life. Symptoms of CF are permanent and seemingly healthy sufferers have to take one or more antibiotics at any given time to suppress infection. These include antibiotics such as tobramycin, coliston (a drug most effective in suppressing bacterial infections) and cayston (an antibiotic with properties similar to penicillin). Antibiotics are necessary when lung function has noticeably deteriorated. Tobramycin and other drugs dealing with amino-modified sugars often have numerous adverse effects such as inner ear, kidney and/or hearing problems.

**Alternative treatments** Upon contracting pneumonia or in the case of worsening lung function, a more permanent treatment is needed. A peripherally inserted central catheter (PICC) is often inserted surgically. Since the thickened mucus often fills the lungs, a catheter is a tube which removes the fluid from it. Other mechanical treatments for CF include chest physiotherapy (a process in which a therapist massages an individual’s chest to loosen up secretions) and machines such as the intrapulmonary percussive ventilator (IPV) which simulate chest physiotherapy. Sprays such as dornase alfa and hypertonic saline help with the management of cystic fibrosis. These sprays help break down the thickness of the mucus, thus clearing the airways. Dornase alfa, a refined solution of an enzyme, helps break down the DNA in the mucus by using water. As lung disease worsens, machines such as bilevel positive airway pressure (BiPAP) ventilators may be necessary to prevent low oxygen levels during sleep. These machines may also be used in physical therapy to improve the clearing of mucus in the airways. During extremely severe illness, a tracheostomy (the placing of a tube in the throat) may be performed to enable ventilator-assisted breathing. // (Girl suffering from CF with a mask and a intrapulmonary percussive ventilator [IPV]) //

**Organ Transplantations.** As lung function and the ability to exercise deterio rates, lung transplantation is often necessary for long-term CF sufferers. Single lung transplantation is possible for individuals with other diseases but CF sufferers must have both lungs replaced as the remaining lung could have bacteria that would affect the transplanted lung. Pancreas and liver transplants are often common as CF sufferers often have various liver complications and/or diabetes.

**Interesting facts**


 * 1) Caucasians are most prone to CF. 4% of people of European descent carry one allele (forms of a gene) for CF.
 * 2) Ireland has the highest percentage of CF sufferers and the highest carrier rate in the world, with over 5% of the population classed as carriers. CF is also the most common life-threatening genetic disease in Ireland and it has the largest ratio of families with two or more children suffering from the disorder.
 * 3) Cystic fibrosis is ranked as a rare disease. However, it is one of the most common life-threatening genetic disease in the world.
 * 4) Although Western countries have a larger number of CF carriers, a notable exception is Finland. Only 1% of the population carry a CF mutation.
 * 5) In the United States, 1 in 4000 children are born with CF as opposed to 1 in 15000 for African Americans and 1 in 32000 for Asian Americans.
 * 6) Supposedly, CF first appeared in about 3000 BC. This is probably because of the change in diet and the rapid migration of different peoples.
 * 7) Even though the main symptoms of CF were not listed out until the early 20th century, references to it appeared in 18th century German literature. //Wehe dem Kind, das beim Kuß auf die Stirn salzig schmekt, er ist verhext und muss bald sterbe// or "Woe is the child who tastes salty from a kiss on the brow, for he is cursed, and soon must die,", an allusion to the high level of salt in the sweat of a CF sufferer.
 * 8) In 1938, Dorothy Hanse Andersen, an American physician, published a treatise on the effects of CF on the pancreas. She was the first to write about the gastrointestinal and respiratory complications associated with CF.
 * 9) However, it was not until 1988 that the first mutation in the CFTR gene was discovered. Francis Collins, Lap-Chee Tsui and John R. Riordan discovered the mutation within the seventh chromosome. They paved the way for future research, resulting in the discovery of over 900 different mutations in the CFTR gene.

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