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	Disorders Associated with Diabetes Causes, Symptoms, Diagnosis, Treatment Cystic Fibrosis Edited reprint of NIH Publication What is Cystic Fibrosis (CF)? CF is a chronic, genetic (hereditary), debilitating disease where the body over produces mucous. Excess mucous can clogged the pancreas contributing to the secondary onset of type 2 diabetes. CF affects approximately 30,000 children and adults in the U.S. It can lead to serous life-threatening lung infections because the thick mucous clogs the lungs. This mucous can also block ducts in the pancreas causing permanent damage that can lead to the onset of type 1 diabetes. Most persons with CF are diagnosed prior to age three, with approximately 1,000 new cases diagnosed each year. Other names for cystic fibrosis are: CF Cystic fibrosis of the pancreas Fibrocystic disease of the pancreas Mucoviscidosis Mucoviscidosis of the pancreas Pancreas fibrocystic disease Pancreatic cystic fibrosis What Causes Cystic Fibrosis? Source: Edited reprint, courtesy of NHBLI Cystic fibrosis (CF) is caused by a defect in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene makes a protein that controls the movement of salt and water in and out of the cells in your body. In people with CF, the gene does not work effectively. This causes the thick, sticky mucus and very salty sweat that are the main features of CF. Each of us inherits two CFTR genes, one from each parent. Children who inherit an abnormal CFTR gene from each parent will have CF. Children who inherit an abnormal CFTR gene from one parent and a normal CFTR gene from the other parent will not have CF. They will be CF carriers. CF carriers usually have no symptoms of CF, live normal lives, but can pass the abnormal CFTR gene on to their children When two CF carriers have a baby, the baby has a: One in four chance of inheriting two abnormal CFTR genes and having CF. One in four chance of inheriting two normal CFTR genes and not having CF or being a carrier. Two in four chance of inheriting one normal CFTR gene and one abnormal CFTR gene. The baby will not have CF but will be a CF carrier like its parents. About 30,000 people in the United States have cystic fibrosis (CF): It affects both males and females. It affects people from all racial and ethnic groups but is most common among Caucasians whose ancestors came from northern Europe. CF is one of the most common inherited diseases among Caucasians. About 1 in every 3,000 babies born in the United States has CF. CF is also common in Latinos and Native Americans, especially the Pueblo and Zuni CF is much less common among African Americans and Asian Americans About 12 million Americans are carriers of an abnormal CF gene. Many of them do not know that they are CF carriers. What Are Symptoms of Cystic Fibrosis? Most of the symptoms of cystic fibrosis (CF) are caused by the thick, sticky mucus. The most common symptoms include: Frequent coughing that brings up thick sputum, or phlegm (flem). Frequent bouts of bronchitis and pneumonia. They can lead to inflammation and permanent lung damage. Salty-tasting skin. Dehydration. Infertility (mostly in men). Ongoing diarrhea or bulky, foul-smelling, and greasy stools. Huge appetite but poor weight gain and growth. This is called "failure to thrive." It is a result of chronic malnutrition because you do not get enough nutrients from your food. Stomach pain and discomfort caused by too much gas in your intestines. CF can also lead to other medical problems, including: Sinusitis. The sinuses are air-filled spaces behind your eyes, nose, and forehead. They produce mucus and help keep the lining of your nose moist. When the sinuses become swollen, they get blocked with mucus and can become infected. Most people with CF develop sinusitis. Bronchiectasis. Bronchiectasis is a lung disease in which the bronchial tubes, or large airways in your lungs, become stretched out and flabby over time and form pockets where mucus collects. The mucus provides a breeding ground for bacteria. This leads to repeated lung infections. Each infection does more damage to the bronchial tubes. If not treated, bronchiectasis can lead to serious illness, including respiratory failure. Pancreatitis. Pancreatitis is inflammation in the pancreas that causes pain. Episodes of intestinal blockage, especially in newborns. Nasal polyps, or growths in your nose, that may require surgery. Clubbing. Clubbing is the widening and rounding of the tips of your fingers and toes. It develops because your lungs are not moving enough oxygen into your blood stream. Collapsed lung. This is also called pneumothorax. Rectal prolapse. Frequent coughing or problems passing stools may cause rectal tissue from inside you to move out of your rectum. Liver disease due to inflammation or blocked bile ducts. Diabetes. Gallstones. Low bone density because you do not get enough Vitamin D. Tests and Diagnosis of CF The sweat test is the most useful test for diagnosing cystic fibrosis (CF). It measures the amount of salt in your sweat. For this test, doctors rub a small amount of a chemical called pilocarpine (pi-lo-KAR-pen) on your arm or leg. They then attach an electrode to this spot. The electrode provides a mild electric current that produces sweat. This may cause tingling or a feeling of warmth. They then cover the area with a gauze pad or filter paper and wrap in plastic. After 30 to 40 minutes, they remove the plastic so the sweat that collected on the pad or paper can be analyzed. The test is usually done twice. High salt levels mean CF. Your doctor may also do the following tests to understand more about your condition and how to treat it: Blood tests to look for an abnormal CF gene or other things that indicate CF. Chest x ray.A chest x ray takes a picture of your lungs. It can show scarring from inflammation in your lungs. Sinus x ray.This test may show signs of sinusitis. Lung function test scan measure: How much air your lungs can hold How quickly you can breathe air out of your lungs How well your lungs add oxygen to and remove carbon dioxide from your blood Sputum (phlegm) cultures. Doctors take a sample of your sputum to see what bacteria are growing in it. Some States are now testing the blood of all newborns for CF. CF Carrier Testing You may want to check whether you are a CF carrier, if: You have a family history of CF. You are a partner of someone with CF. You are a couple planning a pregnancy. A genetics counselor at your local hospital can take a blood or saliva sample to see if it contains the abnormal CFTR gene that causes CF. It will detect 9 out of 10 cases of CF. Some insurance plans cover genetic testing. Treatment for Cystic Fibrosis There still is no cure for cystic fibrosis (CF), but treatments have improved greatly in recent years. The goals of CF treatment are to: Prevent and control infections in your lungs. Loosen and remove the thick, sticky mucus from your lungs. Prevent blockages in your intestines. Provide adequate nutrition. Treatment for Lung Problems The main treatments for lung problems in people with CF are: Antibiotics for infections of the airways Chest physical therapy Exercise Other medications Antibiotics Most people with CF have ongoing, low-grade lung infections. Sometimes, these infections become so serious that you may need to be hospitalized. Antibiotics are the primary treatment. You may be given several different types of antibiotics. The choice of antibiotics depends on: The strains of bacteria involved How serious your condition is Your previous history of antibiotic use The different types of antibiotics include: Oral antibiotics for relatively mild airway infections. Inhaled antibiotics, such as tobramycin. They may be used alone or with oral antibiotics. Intravenous antibiotics for severe infections or when none of the oral antibiotics work. Antibiotics, such as azithromycin, that also reduce inflammation. Chest Physical Therapy Chest physical therapy (CPT) is also called chest clapping or percussion. It involves pounding your chest and back over and over again to dislodge the mucus from your lungs so that you can cough up the mucus. CPT for cystic fibrosis should be done three to four times each day. CPT is also often referred to as postural drainage. This involves your sitting or lying on your stomach with your head down while you do CPT. This allows gravity to help drain the mucus from your lungs. Because CPT is hard or uncomfortable for some people, several devices have been developed recently that may help with CPT. The devices include: An electric chest clapper, known as a mechanical percussor. An inflatable therapy vest that uses high-frequency air waves to force the mucus out of your lungs. A "flutter" device, a small hand-held device that you breathe out through. It causes vibrations that dislodge the mucus. A positive expiratory pressure (PEP) mask that creates vibrations that help break the mucus loose from the airway walls. Several breathing techniques may also help dislodge the mucus. These techniques include: Forced expiration technique (FET)�forcing out a couple of breaths or huffs and then doing relaxed breathing Active cycle breathing (ACB)�FET with deep breathing exercises that can loosen the mucus in your lungs and help open your airways Exercise Aerobic exercise helps: Loosen the mucus Encourage coughing to clear the mucus Improve your overall physical condition If you exercise regularly, you may be able to cut back on your chest therapy. Check with your doctor before doing this. Other Medications Anti-inflammatory medications may help reduce the inflammation in your lungs that is caused by ongoing infections. These medications include: Inhaled or, sometimes, oral steroids. Steroids are the most effective anti-inflammatory medicines. Ibuprofen, a type of nonsteroidal, anti-inflammatory medicine. It may slow the progress of CF in young children with mild symptoms. Bronchodilators, which are inhaled drugs that relax the muscles around the airways so that the airways can open up. They should be taken just before CPT to help clear mucus. Mucus-thinning drugs reduce the stickiness of mucus in your airways. They include: Human DNase(Dornase Alfa), a drug that loosens the mucus in your lungs. It may lead to shorter hospital stays. Acetylcysteineand saline. Saline washes of your nasal passages, which may help clear your sinuses. Oxygen Therapy If the level of oxygen in your blood is too low, you may need oxygen therapy. Oxygen is usually given through nasal prongs or a mask. Lung Transplantation Surgery to replace one or both of your lungs with healthy lungs from a human donor may help you. Some of the factors that determine whether you can undergo lung transplantation include: The type of bacteria in your lungs Your age and weight The medications you are taking Whether you have other medical conditions, including osteoporosis How well your lungs are functioning Management of Digestive Problems Nutritional therapy can improve your growth and development, strength, and exercise tolerance. It may also make you strong enough to resist some lung infections. Nutritional therapy includes a well-balanced, high-calorie diet that is low in fat and high in protein. As part of your nutritional therapy, your doctor may: Prescribe oral pancreatic enzymes to help you digest fats and proteins and absorb more vitamins. The enzymes should be taken in capsule form before every meal, including snacks. Recommend supplements of vitamins A, D, E, and K to replace the fat-soluble vitamins that your intestines cannot absorb. Recommend that you use a feeding tube, called a gastrostomy (gas-TROS-to-me) tube or T-tube, to add more calories at night while you are sleeping. The tube is placed in your stomach. Before you go to bed each night, you attach a bottle with a nutritional solution to the entrance of the tube. It feeds you while you sleep. Other treatments for the digestive problems caused by CF may include: Enemas and mucus-thinning medications to treat intestinal blockages Medicines that reduce stomach acid and help the oral pancreatic enzymes work better Living With Cystic Fibrosis If you have cystic fibrosis (CF), you should learn as much as you can about the disease and work closely with your doctors to learn how to manage it. Ongoing medical care is important. You should seek treatment from a team of doctors, nurses, and respiratory therapists who specialize in CF. These specialists are often located at CF Foundation Centers in major medical centers. Good self-care includes: Eating a healthy diet Avoiding tobacco smoke Washing your hands often to reduce your chances of infection Exercising frequently Drinking lots of fluids Doing chest physical therapy every day Having annual flu and other appropriate vaccinations Taking your medicines as prescribed You can expect to have a normal sex life. Most men with CF are infertile, but they may be helped with modern reproductive techniques. Although most women with CF may be less fertile than women who don�t have CF, they usually can have children. Talk to your doctor before becoming pregnant. Having a positive attitude is also helpful. If you are a parent of someone with CF, do not feel guilty about passing it on to your child. And do not be overprotective; encourage your child to be active and self-reliant. Cystic Fibrosis Foundation 6931 Arlington Road Bethesda, MD 20814 Phone: 301�951�4422 or 1�800�FIGHT�CF Internet: www.cff.org, Robert Beall, President Purpose: Supports medical research, professional education, and a nationwide network of care centers to benefit patients with cystic fibrosis (CF). Supports services for young adults with CF. Publications: Information brochures. Source National Institute of Health Publication edited reprint, used with permission.