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Cystic fibrosis (CF) is a chronic, progressive, and frequently fatal genetic (inherited) disease of the body's mucous glands. CF primarily affects the respiratory and digestive systems in children and young adults. The sweat glands and the reproductive system are also usually involved. In general, individuals with CF have a lifespan of approximately 30 years.
CF does not follow the same pattern in all patients but affects different people in different ways and to varying degrees. However, the basic problem is the same - an abnormality in the glands, which produce or secrete sweat and mucous. Sweat cools the body; mucous lubricates the respiratory, digestive, and reproductive systems, and prevents tissues from drying out, protecting them from infection.
Incidence
According to the data collected by the Cystic Fibrosis Foundation, there are about 30,000 Americans, 3,000 Canadians, and 20,000 Europeans with CF. The disease occurs mostly in whites whose ancestors came from northern Europe, although it affects all races and ethnic groups. Accordingly, it is less common in African Americans, Native Americans, and Asian Americans. Approximately 2,500 babies are born with CF each year in the United States. In addition, about 1 in every 20 Americans is an unaffected carrier of an abnormal "CF gene." These 12 million people are usually unaware that they are carriers.
Signs & Symptoms
CF symptoms vary from child to child. A baby born with the CF genes usually has symptoms during its first year. Sometimes, however, signs of the disease may not show up until adolescence or even later. Infants or young children should be tested for CF if they have persistent diarrhea, bulky foul-smelling and greasy stools, frequent wheezing or pneumonia, a chronic cough with thick mucous, salty-tasting skin, or poor growth. CF should be suspected in babies born with an intestinal blockage called meconium ileus.
Diagnosis & Tests
The most common test for CF is called the sweat test. It measures the amount of salt (sodium chloride) in the sweat. In this test, an area of the skin (usually the forearm) is made to sweat by using a chemical called pilocarpine and applying a mild electric current. To collect the sweat, the area is covered with a gauze pad or filter paper and wrapped in plastic. After 30 to 40 minutes, the plastic is removed, and the sweat collected in the pad or paper is analyzed. Higher than normal amounts of sodium and chloride suggest that the person has cystic fibrosis.
The sweat test may not work well in newborns because they do not produce enough sweat. In that case, another type of test, such as the immunoreactive trypsinogen test (IRT), may be used. In the IRT test, blood drawn 2 to 3 days after birth is analyzed for a specific protein called trypsinogen. Positive IRT tests must be confirmed by sweat and other tests.
Also, a small percentage of people with CF have normal sweat chloride levels. They can only be diagnosed by chemical tests for the presence of the mutated gene. Some of the other tests that can assist in the diagnosis of CF are chest X-rays, lung function tests, and sputum (phlegm) cultures. Stool examinations can help identify the digestive abnormalities that are typical of CF.
Treatment & Prevention
Since CF is a genetic disease, the only way to prevent or cure it would be with gene therapy at an early age. Ideally, gene therapy could repair or replace the defective gene. Another option for treatment would be to give a person with CF the active form of the protein product that is scarce or missing.
At the time of writing, neither gene therapy nor any other kind of treatment exists for the basic causes of CF, although several drug-based approaches are being investigated. In the meantime, the best that doctors can do is to ease the symptoms of CF or slow the progress of the disease so the patient's quality of life is improved. This is achieved by antibiotic therapy combined with treatments to clear the thick mucous from the lungs. The therapy is tailored to the needs of each patient. For patients whose disease is very advanced, lung transplantation may be an option.
Prognosis; Complications
CF was once always fatal in childhood. Better treatment methods developed over the past 20 years have increased the average lifespan of CF patients to nearly 30 years.
People with CF lose excessive amounts of salt when they sweat. This can upset the balance of minerals in the blood, which may cause abnormal heart rhythms. Going into shock is also a risk.
Mucous in CF patients is very thick and accumulates in the intestines and lungs. The result is malnutrition, poor growth, frequent respiratory infections, breathing difficulties, and eventually permanent lung damage. Lung disease is the usual cause of death in most patients.
CF can cause various other medical problems. These include sinusitis (inflammation of the nasal sinuses, which are cavities in the skull behind, above, and on both sides of the nose), nasal polyps (fleshy growths inside the nose), clubbing (rounding and enlargement of fingers and toes), pneumothorax (rupture of lung tissue and trapping of air between the lung and the chest wall), hemoptysis (coughing of blood), cor pulmonale (enlargement of the right side of the heart), abdominal pain and discomfort, gassiness (too much gas in the intestine), and rectal prolapse (protrusion of the rectum through the anus). Liver disease, diabetes, inflammation of the pancreas, and gallstones also occur in some people with CF.
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Conditions that suggest Cystic Fibrosis:
Risk factors for Cystic Fibrosis:
Recommendations and treatments for Cystic Fibrosis: | | | | | Animal-based |  Bile Salts | Cystic fibrosis is associated with poor lipase secretion and, as a result, poor fat digestion. Pancreatic enzymes and bile salts may help. |
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Mineral |
 Selenium |
Vitamins |
 Vitamin E| | Cystic fibrosis is associated with defective absorption of vitamin E because of a lack of lipase and poor formation of chylomicrons (small fat clusters). |
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KEY | | Weak or unproven link |  | | Proven definite or direct link |  | | Strongly counter-indicative | | | May do some good | | | Likely to help | | | Highly recommended |
GLOSSARY
Abdomen (Abdominal)
That part of the body between the chest and the hips that contains the stomach, intestines, liver, bladder, pancreas and other organs.
Chronic (Chronicity)
Usually referring to chronic illness: Illness extending over a long period of time.
Cor Pulmonale
Hypertrophy of the right ventricle of the heart resulting from excessive pressure in the pulmonary artery.
Cystic Fibrosis
(CF) An incurable genetic disease involving a sticky buildup of mucus in the lungs (which makes breathing difficult and leads to infections), as well as pancreatic insufficiency (which leads to digestive problems). Symptoms include chronic cough producing thick mucus, excessive appetite combined with weight loss, intestinal disorders, salty sweat/skin and pneumonia. Lung-related problems are the most frequent cause of death. CF is a recessive disease, occurring only when a person inherits two mutated copies of the CF gene - one from each parent. Individuals with CF generally have a life expectancy of about 30 years.
Diabetes Mellitus (Diabetes, Diabetic, Diabetics)
A disease with increased blood glucose levels due to lack or ineffectiveness of insulin. Diabetes is found in two forms; insulin-dependent diabetes (juvenile-onset) and non-insulin-dependent (adult-onset). Symptoms include increased thirst; increased urination; weight loss in spite of increased appetite; fatigue; nausea; vomiting; frequent infections including bladder, vaginal, and skin; blurred vision; impotence in men; bad breath; cessation of menses; diminished skin fullness. Other symptoms include bleeding gums; ear noise/buzzing; diarrhea; depression; confusion.
Diarrhea
Excessive discharge of contents of bowel.
Enzymes (Enzyme)
Specific protein catalysts produced by the cells that are crucial in chemical reactions and in building up or synthesizing most compounds in the body. Each enzyme performs a specific function without itself being consumed. For example, the digestive enzyme amylase acts on carbohydrates in foods to break them down.
Gallstone (Biliary Calculus, Gall Stone, Gall Stones, Gallbladder Attack, Gallbladder Attacks, Gallstones)
Stone-like objects in either the gallbladder or bile ducts, composed mainly of cholesterol and occasionally mixed with calcium. Most gallstones do not cause problems until they become larger or they begin obstructing bile ducts, at which point gallbladder "attacks" begin to occur. Symptoms usually occur after a fatty meal and at night. The following are the most common ones: steady, severe pain in the middle-upper abdomen or below the ribs on the right; pain in the back between the shoulder blades; pain under the right shoulder; nausea; vomiting; fever; chills; jaundice; abdominal bloating; intolerance of fatty foods; belching or gas; indigestion.
Gland (Glands)
The glandular system is one of the most important and complicated systems of the body. Gland tissue can be either an organ or general tissue that secretes chemicals and there are two types of gland: exocrine and endocrine. Those glands which secrete chemicals through tubules or ducts are called exocrine and include sweat, tear and salivary glands. Ductless glands - part of the endocrine system - secrete special chemicals (hormones) directly into the blood.
Ileus
Bowel obstruction.
Lipase
An enzyme secreted by the pancreas to assist in fat breakdown.
Liver (Hepatic)
The largest and one of the most complex organs of the body, the liver is responsible for much of the metabolism of fats, proteins and carbohydrates. It is the site of much of the body's detoxification. It is connected very closely with digestion and the regulation of blood sugar, among many other functions. Found behind the ribs on the right side of the abdomen, it has many important functions such as removing harmful material from the blood, making enzymes and bile that help digest food, and converting food into substances needed for life and growth. Hepatic: Pertaining to the liver.
Lung (Lungs, Pulmonary)
Organ of the body, located in the chest cavity which is designed to bring oxygen from the air into the blood stream, while also expelling carbon dioxide and other waste gases out of the body. Pulmonary: Related to the lungs.
Mucus (Mucous)
The viscous, slippery substance that consists chiefly of mucin, water, cells, and inorganic salts and is secreted as a protective lubricant coating by cells and glands of the mucous membranes.
Pancreas (Pancreatic)
Opposite the liver and behind the stomach, the pancreas has two main functions - to manufacture various enzymes for digestion, and to release hormones to help control the body's use of carbohydrates. It releases insulin to help each cell absorb glucose to burn as energy. In this way, insulin controls the amount of sugar (glucose) in the blood. Proper pancreatic function is very important: too much, too little, or no insulin production can be life-threatening. Some of the chemicals released by the pancreas are not hormones, but stimulate other glands to make hormones. Once again, balance is necessary. Nutritional requirements for the pancreas are many. Research indicates that chromium vitamins C, E, B-complex, calcium, magnesium and potassium are especially important.
Phlegm
Mucus in the throat or bronchi.
Pneumonia (Pneumonitis)
Inflammation, usually infectious, of the lungs. Unless the result of only moderate chemical or smoke irritation, it is a potentially life-threatening condition. There are so many defenses against an infection this deep in the body that the very presence of pneumonia signals a pathogen of great virulence or impaired or exhausted immunity, or all three. Pneumonitis: Inflammation of the lungs, from whatever cause. It may be concurrent with pneumonia or pleurisy.
Polyp (Polyps)
A usually nonmalignant growth or tumor protruding from the mucous lining of an organ such as the nose, bladder or intestine, often causing obstruction.
Protein (Proteins)
Compounds composed of hydrogen, oxygen, and nitrogen present in the body and in foods that form complex combinations of amino acids. Protein is essential for life and is used for growth and repair. Foods that supply the body with protein include animal products, grains, legumes, and vegetables. Proteins from animal sources contain the essential amino acids. Proteins are changed to amino acids in the body.
Sinusitis
Inflammation of the sinuses, with causes ranging from dust to hay fever. Obstinate cases can be caused by chronic sinus infections or the continued exposure to allergens from food, pets or environmental irritants.
Sodium
An essential mineral that our bodies regulate and conserve. Excess sodium retention increases the fluid volume (edema) and low sodium leads to less fluid and relative dehydration. The adult body averages a total content of over 100 grams of sodium, of which a surprising one-third is in bone. A small amount of sodium does get into cell interiors, but this represents only about ten percent of the body content. The remaining 57 percent or so of the body sodium content is in the fluid immediately surrounding the cells, where it is the major cation (positive ion). The role of sodium in the extracellular fluid is maintaining osmotic equilibrium (the proper difference in ions dissolved in the fluids inside and outside the cell) and extracellular fluid volume. Sodium is also involved in nerve impulse transmission, muscle tone and nutrient transport. All of these functions are interrelated with potassium.
Vitamin E
An essential fat-soluble vitamin. As an antioxidant, helps protect cell membranes, lipoproteins, fats and vitamin A from destructive oxidation. It helps protect red blood cells and is important for the proper function of nerves and muscles. For Vitamin E only, 1mg translates to 1 IU.
X-rays (X-ray)
High-energy radiation used to take pictures of areas inside the body.
Last updated: Jun 28, 2008
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