Cystic fibrosis (patient information): Difference between revisions
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==Overview== | ==Overview== | ||
{{ | {{Cystic fibrosis (patient information)}} | ||
The [[CFTR (gene)|CFTR gene]] makes a [[protein]] that controls the movement of salt and water in and out of the cells. In people who have cystic fibrosis, the [[gene]] makes a [[protein]] that | The [[CFTR (gene)|CFTR gene]] makes a [[protein]] that controls the movement of salt and water in and out of the cells. In people who have cystic fibrosis, the [[gene]] makes a [[protein]] that does not work well. This causes thick, sticky [[mucus]] and very salty sweat. The other [[Symptom|symptoms]] of cystic fibrosis include [[Respiratory infection|pulmonary infection]], greasy [[diarrhea]], [[Abdominal pain|stomach pain]] and poor weight gain. The diagnostic tests for cystic fibrosis include [[Genetic testing|genetic analysis]] and [[Sweat test|sweat chloride test]]. The treatments for [[lung]] problems chest [[physical therapy]], [[Physical exercise|exercise]], medicines ([[Antibiotic|antibiotics]], [[Anti inflammatory medications|anti-inflammatory]], [[Bronchodilator|bronchodilators]] and [[Mucolytic agent|mucolytic]]<nowiki/>s) and [[pulmonary rehabilitation]]. The treatments of [[Digestive system|digestive]] problems include [[Nutrition|nutritional]] therapy, [[vitamin]] supplements, high salt diet and oral [[Pancreas|pancreatic]] [[enzymes]]. | ||
==What are the Symptoms of cystic fibrosis?== | ==What are the Symptoms of cystic fibrosis?== | ||
* Skin tastes salty | * Skin tastes salty | ||
* Baby | * Baby does not pass stool when first born | ||
=== Pulmonary symptoms: === | === Pulmonary symptoms: === | ||
* | * [[Respiratory tract infection|Pulmonary infections]] (cause frequent [[Cough|coughing]] that brings up thick [[sputum]] that is sometimes bloody) | ||
* [[Nasal polyp|Nasal polyps]] (growths in the nose) | * [[Nasal polyp|Nasal polyps]] (growths in the nose) | ||
=== Digestive System: === | === Digestive System: === | ||
* [[Diarrhea]] or bulky, foul-smelling, greasy stools ([[mucus]] can block [[Duct (anatomy)|ducts]] in [[pancreas]] and prevents [[enzymes]] from reaching the [[Intestine|intestines]]. As a result, | * [[Diarrhea]] or bulky, foul-smelling, [[Steatorrhea|greasy stools]] ([[mucus]] can block [[Duct (anatomy)|ducts]] in [[pancreas]] and prevents [[enzymes]] from reaching the [[Intestine|intestines]]. As a result, [[Intestine|intestines]] can not fully absorb [[Lipid|fats]] and [[Protein|proteins]]. | ||
* [[Stomach pains|Stomach pain]] and discomfort (because of too much gas or severe [[constipation]]) | * [[Stomach pains|Stomach pain]] and discomfort (because of too much gas or severe [[constipation]]) | ||
* [[Failure to thrive|Poor weight gain]] and growth (because of the lack of [[enzymes]] to help absorb [[Fat|fats]] and [[Protein|proteins]]) | * [[Failure to thrive|Poor weight gain]] and growth (because of the lack of [[enzymes]] to help absorb [[Fat|fats]] and [[Protein|proteins]]) | ||
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=== Newborn Screening === | === Newborn Screening === | ||
* All States screen newborns for CF using a [[Genetic testing|genetic test]] or a [[blood test]]. The genetic test shows whether a newborn has faulty [[CFTR (gene)|CFTR genes]]. | * All States [[Screening (medicine)|screen]] newborns for CF using a [[Genetic testing|genetic test]] or a [[blood test]]. The [[Genetic testing|genetic test]] shows whether a newborn has faulty [[CFTR (gene)|CFTR genes]]. | ||
* The [[blood test]] shows whether a newborn's [[pancreas]] is working properly. | * The [[blood test]] shows whether a newborn's [[pancreas]] is working properly. | ||
=== Sweat Test === | === Sweat Test === | ||
* If a [[Genetic testing|genetic test]] or [[blood test]] suggests CF, a doctor will confirm the diagnosis using a [[sweat test]]. This test is the most useful test for diagnosing CF. A [[sweat test]] measures the amount of salt in sweat. For this test, the doctor triggers sweating on a small patch of skin on an arm or leg, rubs the skin with a sweat-producing chemical and then uses an [[electrode]] to provide a mild [[Electric current|electrical current]]. This may cause a tingling or warm feeling. Sweat is collected on a pad or paper and then analyzed. The [[sweat test]] usually is done twice. High salt levels confirm a diagnosis of CF. | * If a [[Genetic testing|genetic test]] or [[blood test]] suggests CF, a doctor will confirm the diagnosis using a [[sweat test]]. This test is the most useful test for diagnosing CF. A [[sweat test]] measures the amount of salt in sweat. For this test, the doctor triggers sweating on a small patch of skin on an arm or leg, rubs the skin with a sweat-producing chemical and then uses an [[electrode]] to provide a mild [[Electric current|electrical current]]. This may cause a tingling or warm feeling. Sweat is collected on a pad or paper and then analyzed. The [[sweat test]] usually is done twice. High salt levels confirm a [[diagnosis]] of CF. | ||
=== Other Tests === | === Other Tests === | ||
* [[Genetic testing|Genetic test]]<nowiki/>s to find out what type of [[Cystic fibrosis transmembrane conductance regulator|CFTR]] defect is causing your CF. | * [[Genetic testing|Genetic test]]<nowiki/>s to find out what type of [[Cystic fibrosis transmembrane conductance regulator|CFTR]] defect is causing your CF. | ||
* A [[Chest X-ray|chest x ray]] can show whether your lungs are inflamed or scarred, or whether they trap air. | * A [[Chest X-ray|chest x ray]] can show whether your [[Lung|lungs]] are inflamed or scarred, or whether they trap air. | ||
* A [[sinus]] x ray may show signs of [[Rhinosinusitis|sinusitis]], a complication of CF. | * A [[sinus]] x ray may show signs of [[Rhinosinusitis|sinusitis]], a [[Complication (medicine)|complication]] of CF. | ||
* [[Spirometry|Lung function tests]] measure how much air you can breathe in and out, how fast you can breathe air out, and how well | * [[Spirometry|Lung function tests]] measure how much air you can breathe in and out, how fast you can breathe air out, and how well your [[Lung|lungs]] deliver [[oxygen]] to your [[blood]]. | ||
* A [[sputum culture]] which your doctor will take a sample of your [[sputum]] (spit) to see whether [[bacteria]] are growing in it. If you have [[bacteria]] called mucoid [[Pseudomonas]], you may have more advanced CF that needs aggressive treatment. | * A [[sputum culture]] which your doctor will take a sample of your [[sputum]] (spit) to see whether [[bacteria]] are growing in it. If you have [[bacteria]] called mucoid [[Pseudomonas]], you may have more advanced CF that needs aggressive treatment. | ||
=== Prenatal Screening === | === Prenatal Screening === | ||
* If you | * If you are [[Pregnancy|pregnant]], prenatal [[Genetic testing|genetic tests]] can show whether your [[fetus]] has CF. These tests include [[amniocentesis]] and [[Chorionic villus sampling|chorionic villus sampling (CVS)]]. | ||
** In [[amniocentesis]], your doctor inserts a hollow needle through your [[abdominal wall]] into your [[uterus]] and removes a small amount of fluid from the sac around the baby. The fluid is tested to see whether both of the baby's [[CFTR (gene)|CFTR genes]] are normal. | ** In [[amniocentesis]], your doctor inserts a hollow needle through your [[abdominal wall]] into your [[uterus]] and removes a small amount of fluid from the sac around the baby. The fluid is tested to see whether both of the baby's [[CFTR (gene)|CFTR genes]] are normal. | ||
** In [[Chorionic villus sampling|CVS]], your doctor threads a thin tube through the [[vagina]] and [[cervix]] to the [[placenta]]. and removes a tissue sample from the [[placenta]] using gentle suction. The sample is tested to see whether the baby has CF. | ** In [[Chorionic villus sampling|CVS]], your doctor threads a thin tube through the [[vagina]] and [[cervix]] to the [[placenta]]. and removes a tissue sample from the [[placenta]] using gentle suction. The sample is tested to see whether the baby has CF. | ||
=== Cystic Fibrosis Carrier Testing === | === Cystic Fibrosis Carrier Testing === | ||
* People who have one normal [[Cystic fibrosis transmembrane conductance regulator|CFTR]] [[gene]] and one faulty [[Cystic fibrosis transmembrane conductance regulator|CFTR]] [[gene]] are CF carriers. CF carriers usually have no [[Symptom|symptoms]] of CF and live normal lives. However, [[Carrier|carriers]] can pass faulty [[CFTR (gene)|CFTR genes]] on to their children. If you have a [[family history]] of CF or a partner who has CF (or a family history of it) and you | * People who have one normal [[Cystic fibrosis transmembrane conductance regulator|CFTR]] [[gene]] and one faulty [[Cystic fibrosis transmembrane conductance regulator|CFTR]] [[gene]] are CF carriers. CF [[Carrier|carriers]] usually have no [[Symptom|symptoms]] of CF and live normal lives. However, [[Carrier|carriers]] can pass faulty [[CFTR (gene)|CFTR genes]] on to their children. If you have a [[family history]] of CF or a partner who has CF (or a [[family history]] of it) and you are planning a [[pregnancy]], you may want to find out whether you are a CF [[carrier]]. | ||
* A [[genetics]] counselor can test | * A [[genetics]] counselor can [[Blood test|test a blood]] or [[saliva]] sample to find out whether you have a faulty [[CFTR (gene)|CF gene]]. This type of testing can detect faulty [[CFTR (gene)|CF genes]] in 9 out of 10 cases. | ||
==Treatment Options== | ==Treatment Options== | ||
Cystic fibrosis (CF) has no [[cure]]. However, treatments have greatly improved in recent years. The goals of CF treatment include: | Cystic fibrosis (CF) has no [[cure]]. However, treatments have greatly improved in recent years. The goals of CF treatment include: | ||
* Preventing and controlling | * Preventing and controlling [[Respiratory infections|lung infections]] | ||
* Loosening and removing thick, sticky [[mucus]] from | * Loosening and removing thick, sticky [[mucus]] from the [[Lung|lungs]] | ||
* Preventing or treating blockages in the [[Intestine|intestines]] | * Preventing or treating blockages in the [[Intestine|intestines]] | ||
* Providing enough [[nutrition]] | * Providing enough [[nutrition]] | ||
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=== Treatment for Lung Problems === | === Treatment for Lung Problems === | ||
* The main treatments for lung problems in people who have CF are chest [[Physical therapy and rehabilitation|physical therapy]] (CPT), [[Physical exercise|exercise]], and medicines. Your doctor also may recommend a [[pulmonary rehabilitation]] (PR) program. | * The main treatments for [[lung]] problems in people who have CF are chest [[Physical therapy and rehabilitation|physical therapy]] (CPT), [[Physical exercise|exercise]], and medicines. Your doctor also may recommend a [[pulmonary rehabilitation]] (PR) program. | ||
==== Chest Physical Therapy ==== | ==== Chest Physical Therapy ==== | ||
| Line 71: | Line 71: | ||
==== Exercise ==== | ==== Exercise ==== | ||
[[Aerobic exercise]] that makes you breathe harder can help loosen the [[mucus]] in your airways so you can cough it up. [[Physical exercise|Exercise]] also helps improve your overall physical condition. | [[Aerobic exercise]] that makes you breathe harder can help loosen the [[mucus]] in your [[Airway|airways]] so you can cough it up. [[Physical exercise|Exercise]] also helps improve your overall physical condition. | ||
However, CF causes your sweat to become very salty. As a result, your body loses large amounts of salt when you sweat. Thus, your doctor may recommend a high-salt diet or salt supplements to maintain the balance of [[Mineral|minerals]] in your blood. | However, CF causes your sweat to become very salty. As a result, your body loses large amounts of salt when you sweat. Thus, your doctor may recommend a high-salt diet or salt supplements to maintain the balance of [[Mineral|minerals]] in your blood. | ||
==== Medicines ==== | ==== Medicines ==== | ||
If you have CF, your doctor may prescribe [[Antibiotic|antibiotics]], [[Anti inflammatory medications|anti-inflammatory]] medicines, [[Bronchodilator|bronchodilators]], or medicines to help clear the [[mucus]]. These medicines help treat or prevent | If you have CF, your doctor may prescribe [[Antibiotic|antibiotics]], [[Anti inflammatory medications|anti-inflammatory]] medicines, [[Bronchodilator|bronchodilators]], or medicines to help clear the [[mucus]]. These medicines help treat or prevent [[Respiratory infection|lung infections]], reduce [[Edema|swelling]] and open up the [[Airway|airways]], and thin [[mucus]]. If you have [[Mutation|mutations]] in a [[gene]] called G551D, which occurs in about 5 percent of people who have CF, your doctor may prescribe the oral medicine [[Ivacaftor]] (approved for people with CF who are 6 years of age and older). | ||
* [[Antibiotic|Antibiotics]] are the main treatment to prevent or treat | * [[Antibiotic|Antibiotics]] are the main treatment to prevent or treat [[Respiratory infections|lung infections]]. Your doctor may prescribe [[Mouth|oral]], inhaled, or [[Intravenous therapy|intravenous (IV)]] [[Antibiotic|antibiotics]]. [[Antibiotic|Oral antibiotics]] often are used to treat mild lung [[Infection|infections]]. Inhaled [[Antibiotic|antibiotics]] may be used to prevent or control [[Infection|infections]] caused by the [[bacteria]] mucoid [[Pseudomonas]]. For severe or hard-to-treat [[Infection|infections]], you may be given [[Antibiotic|antibiotics]] through an [[Intravenous therapy|IV]] tube (a tube inserted into a [[vein]]). This type of treatment may require you to stay in a hospital. | ||
* [[Anti inflammatory medications|Anti-inflammatory medicines]] can help reduce [[Edema|swelling]] in your airways due to ongoing [[Infection|infections]]. These medicines may be [[Inhalation|inhaled]] or oral. | * [[Anti inflammatory medications|Anti-inflammatory medicines]] can help reduce [[Edema|swelling]] in your [[Airway|airways]] due to ongoing [[Infection|infections]]. These medicines may be [[Inhalation|inhaled]] or oral. | ||
* [[Bronchodilator|Bronchodilators]] help open the [[Airway|airways]] by relaxing the [[Muscle|muscles]] around them. These medicines are inhaled. They're often taken just before | * [[Bronchodilator|Bronchodilators]] help open the [[Airway|airways]] by relaxing the [[Muscle|muscles]] around them. These medicines are [[Inhalation|inhaled]]. They're often taken just before chest [[physical therapy]] to help clear [[mucus]] out of your [[Airway|airways]]. You also may take [[Bronchodilator|bronchodilators]] before inhaling other medicines into your lungs. | ||
* Your doctor may prescribe medicines to reduce the stickiness of your [[mucus]] and loosen it up. These medicines can help clear out [[mucus]], improve lung function, and prevent worsening lung symptoms. | * Your doctor may prescribe medicines to reduce the stickiness of your [[mucus]] and loosen it up. These medicines can help clear out [[mucus]], improve [[lung]] function, and prevent worsening [[lung]] [[Symptom|symptoms]]. | ||
==== Treatments for Advanced Lung Disease ==== | ==== Treatments for Advanced Lung Disease ==== | ||
* If you have | * If you have advanced [[Respiratory disease|lung disease]], you may need [[oxygen therapy]]. | ||
* If | * If other treatments have not worked, a [[Lung transplantation|lung transplant]] may be an option if you have severe [[Respiratory disease|lung disease]]. A [[Lung transplantation|lung transplant]] is surgery to remove a person's diseased lung and replace it with a healthy lung from a deceased donor. | ||
==== Pulmonary Rehabilitation ==== | ==== Pulmonary Rehabilitation ==== | ||
[[Pulmonary rehabilitation]] is a broad program that helps improve the well-being of people who have [[Chronic (medical)|chronic]] (ongoing) breathing problems. | [[Pulmonary rehabilitation]] is a broad program that helps improve the well-being of people who have [[Chronic (medical)|chronic]] (ongoing) breathing problems. | ||
PR | PR does not replace medical therapy. Instead, it is used with medical therapy and may include: | ||
* [[Physical exercise|Exercise]] training | * [[Physical exercise|Exercise]] training | ||
* [[Nutrition|Nutritional]] counseling | * [[Nutrition|Nutritional]] counseling | ||
* Education on | * Education on your [[Respiratory disease|lung disease]] or condition and how to manage it | ||
* Energy-conserving techniques | * Energy-conserving techniques | ||
* Breathing strategies | * Breathing strategies | ||
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=== Treatment for Digestive Problems === | === Treatment for Digestive Problems === | ||
* [[Nutrition|Nutritional]] therapy can improve your strength and ability to stay active. It also can improve growth and development in children. [[Nutrition|Nutritional]] therapy also may make you strong enough to resist some | * [[Nutrition|Nutritional]] therapy can improve your strength and ability to stay active. It also can improve growth and development in children. [[Nutrition|Nutritional]] therapy also may make you strong enough to resist some [[Respiratory infections|lung infections]]. A nutritionist can help you create a [[Nutrition|nutritional]] plan that meets your needs. | ||
* Oral [[Pancreas|pancreatic]] | * Oral [[Pancreas|pancreatic]] [[enzymes]] to help you digest [[Lipid|fats]] and [[Protein|proteins]] and absorb more [[Vitamin|vitamins]] | ||
* Supplements of [[Vitamin|vitamins]] [[Vitamin A|A]], [[Vitamin D|D]], E, and K to replace the fat-soluble [[Vitamin|vitamins]] that your [[Intestine|intestines]] can | * Supplements of [[Vitamin|vitamins]] [[Vitamin A|A]], [[Vitamin D|D]], [[Vitamin E|E]], and [[Vitamin K|K]] to replace the fat-soluble [[Vitamin|vitamins]] that your [[Intestine|intestines]] can not absorb | ||
* High-calorie shakes to provide you with extra nutrients | * High-[[calorie]] shakes to provide you with extra nutrients | ||
* A high-salt diet or salt supplements that you take before [[Physical exercise|exercising]] | * A high-salt diet or salt supplements that you take before [[Physical exercise|exercising]] | ||
* A [[feeding tube]] to give you more [[Calorie|calories]] at night while you | * A [[feeding tube]] to give you more [[Calorie|calories]] at night while you are sleeping. The tube may be threaded through your nose and [[throat]] and into your [[stomach]]. Or, the tube may be placed directly into your [[stomach]] through a surgically made hole. Before you go to bed each night, you will attach a bag with a [[Nutrition|nutritional]] solution to the entrance of the tube. It will feed you while you sleep. | ||
* Sometimes surgery is needed to remove an [[Intestine|intestinal]] blockage. | * Sometimes surgery is needed to remove an [[Intestine|intestinal]] blockage. | ||
* Medicines to reduce your [[Gastric acid|stomach acid]] and help oral [[Pancreas|pancreatic]] | * Medicines to reduce your [[Gastric acid|stomach acid]] and help oral [[Pancreas|pancreatic]] [[enzymes]] work better. | ||
==Where to find Medical Care for Cystic fibrosis?== | ==Where to find Medical Care for Cystic fibrosis?== | ||
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==What to Expect (Outlook/Prognosis)?== | ==What to Expect (Outlook/Prognosis)?== | ||
* [[Life expectancy]] of patients with cystic fibrosis has been increased over past decades because of better symptomatic treatment strategies. | * [[Life expectancy]] of patients with cystic fibrosis has been increased over past decades because of better symptomatic treatment strategies. | ||
* In patients with cystic fibrosis, lung complications are currently the primary causes of [[morbidity]] and are responsible for 80% of [[Mortality rate|mortality]]. | * In patients with cystic fibrosis, [[lung]] [[Complication (medicine)|complications]] are currently the primary causes of [[morbidity]] and are responsible for 80% of [[Mortality rate|mortality]]. | ||
* At present time [[Survival rate|survival]] probability of children is 40-50 years | * At present time [[Survival rate|survival]] probability of children is 40-50 years | ||
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=== Lung involvement: === | === Lung involvement: === | ||
* | * [[Respiratory infections|Pulmonary infections]] | ||
* [[Rhinosinusitis|Sinusitis]] (inflammation of [[Paranasal sinus|sinuses]]) | * [[Rhinosinusitis|Sinusitis]] (inflammation of [[Paranasal sinus|sinuses]]) | ||
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=== Gastrointestinal involvement: === | === Gastrointestinal involvement: === | ||
* [[Maldigestion]] and [[malabsorption]] of [[Nutrient|nutrients]], followed by sequelae of [[malnutrition]] (permanent stunting of stature, cognitive dysfunction and more rapid decline in pulmonary function) | * [[Maldigestion]] and [[malabsorption]] of [[Nutrient|nutrients]], followed by sequelae of [[malnutrition]] (permanent stunting of stature, [[Cognition|cognitive]] dysfunction and more rapid decline in pulmonary function) | ||
* [[Pancreatitis]] (inflammation of [[pancreas]]) | * [[Pancreatitis]] (inflammation of [[pancreas]]) | ||
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{{WS}} | {{WS}} | ||
[[Category:Medicine]] | |||
[[Category:Up-To-Date]] | |||
[[Category:Gastroenterology]] | [[Category:Gastroenterology]] | ||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
[[Category:Pulmonology]] | [[Category:Pulmonology]] | ||
Latest revision as of 19:00, 17 April 2018
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Cystic fibrosis |
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Cystic fibrosis On the Web |
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For the WikiDoc page for this topic, click here
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2]
Overview
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Cystic fibrosis |
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Cystic fibrosis On the Web |
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The CFTR gene makes a protein that controls the movement of salt and water in and out of the cells. In people who have cystic fibrosis, the gene makes a protein that does not work well. This causes thick, sticky mucus and very salty sweat. The other symptoms of cystic fibrosis include pulmonary infection, greasy diarrhea, stomach pain and poor weight gain. The diagnostic tests for cystic fibrosis include genetic analysis and sweat chloride test. The treatments for lung problems chest physical therapy, exercise, medicines (antibiotics, anti-inflammatory, bronchodilators and mucolytics) and pulmonary rehabilitation. The treatments of digestive problems include nutritional therapy, vitamin supplements, high salt diet and oral pancreatic enzymes.
What are the Symptoms of cystic fibrosis?
- Skin tastes salty
- Baby does not pass stool when first born
Pulmonary symptoms:
- Pulmonary infections (cause frequent coughing that brings up thick sputum that is sometimes bloody)
- Nasal polyps (growths in the nose)
Digestive System:
- Diarrhea or bulky, foul-smelling, greasy stools (mucus can block ducts in pancreas and prevents enzymes from reaching the intestines. As a result, intestines can not fully absorb fats and proteins.
- Stomach pain and discomfort (because of too much gas or severe constipation)
- Poor weight gain and growth (because of the lack of enzymes to help absorb fats and proteins)
- Rectal prolapse (frequent coughing or problems passing stools may cause rectal tissue from inside to move out of rectum)
What Causes cystic fibrosis?
- The CFTR gene makes a protein that controls the movement of salt and water in and out of the cells. In people who have cystic fibrosis, the gene makes a protein that doesn't work well. This causes thick, sticky mucus and very salty sweat.
- More than a thousand defects are known that can affect the CFTR gene. The type of defect may affect the severity of cystic fibrosis.
Who is at Highest Risk?
- Every person inherits two CFTR genes, one from each parent. Children who inherit two faulty CFTR gene from both parents will have CF.
Diagnosis
Newborn Screening
- All States screen newborns for CF using a genetic test or a blood test. The genetic test shows whether a newborn has faulty CFTR genes.
- The blood test shows whether a newborn's pancreas is working properly.
Sweat Test
- If a genetic test or blood test suggests CF, a doctor will confirm the diagnosis using a sweat test. This test is the most useful test for diagnosing CF. A sweat test measures the amount of salt in sweat. For this test, the doctor triggers sweating on a small patch of skin on an arm or leg, rubs the skin with a sweat-producing chemical and then uses an electrode to provide a mild electrical current. This may cause a tingling or warm feeling. Sweat is collected on a pad or paper and then analyzed. The sweat test usually is done twice. High salt levels confirm a diagnosis of CF.
Other Tests
- Genetic tests to find out what type of CFTR defect is causing your CF.
- A chest x ray can show whether your lungs are inflamed or scarred, or whether they trap air.
- A sinus x ray may show signs of sinusitis, a complication of CF.
- Lung function tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood.
- A sputum culture which your doctor will take a sample of your sputum (spit) to see whether bacteria are growing in it. If you have bacteria called mucoid Pseudomonas, you may have more advanced CF that needs aggressive treatment.
Prenatal Screening
- If you are pregnant, prenatal genetic tests can show whether your fetus has CF. These tests include amniocentesis and chorionic villus sampling (CVS).
- In amniocentesis, your doctor inserts a hollow needle through your abdominal wall into your uterus and removes a small amount of fluid from the sac around the baby. The fluid is tested to see whether both of the baby's CFTR genes are normal.
- In CVS, your doctor threads a thin tube through the vagina and cervix to the placenta. and removes a tissue sample from the placenta using gentle suction. The sample is tested to see whether the baby has CF.
Cystic Fibrosis Carrier Testing
- People who have one normal CFTR gene and one faulty CFTR gene are CF carriers. CF carriers usually have no symptoms of CF and live normal lives. However, carriers can pass faulty CFTR genes on to their children. If you have a family history of CF or a partner who has CF (or a family history of it) and you are planning a pregnancy, you may want to find out whether you are a CF carrier.
- A genetics counselor can test a blood or saliva sample to find out whether you have a faulty CF gene. This type of testing can detect faulty CF genes in 9 out of 10 cases.
Treatment Options
Cystic fibrosis (CF) has no cure. However, treatments have greatly improved in recent years. The goals of CF treatment include:
- Preventing and controlling lung infections
- Loosening and removing thick, sticky mucus from the lungs
- Preventing or treating blockages in the intestines
- Providing enough nutrition
- Preventing dehydration (a lack of fluid in the body)
Treatment for Lung Problems
- The main treatments for lung problems in people who have CF are chest physical therapy (CPT), exercise, and medicines. Your doctor also may recommend a pulmonary rehabilitation (PR) program.
Chest Physical Therapy
Chest physical therapy also is called chest clapping or percussion. It involves pounding your chest and back over and over with your hands or a device to loosen the mucus from your lungs so that you can cough it up. You might sit down or lie on your stomach with your head down while you do chest physical therapy. Gravity and force help drain the mucus from your lungs.
Exercise
Aerobic exercise that makes you breathe harder can help loosen the mucus in your airways so you can cough it up. Exercise also helps improve your overall physical condition.
However, CF causes your sweat to become very salty. As a result, your body loses large amounts of salt when you sweat. Thus, your doctor may recommend a high-salt diet or salt supplements to maintain the balance of minerals in your blood.
Medicines
If you have CF, your doctor may prescribe antibiotics, anti-inflammatory medicines, bronchodilators, or medicines to help clear the mucus. These medicines help treat or prevent lung infections, reduce swelling and open up the airways, and thin mucus. If you have mutations in a gene called G551D, which occurs in about 5 percent of people who have CF, your doctor may prescribe the oral medicine Ivacaftor (approved for people with CF who are 6 years of age and older).
- Antibiotics are the main treatment to prevent or treat lung infections. Your doctor may prescribe oral, inhaled, or intravenous (IV) antibiotics. Oral antibiotics often are used to treat mild lung infections. Inhaled antibiotics may be used to prevent or control infections caused by the bacteria mucoid Pseudomonas. For severe or hard-to-treat infections, you may be given antibiotics through an IV tube (a tube inserted into a vein). This type of treatment may require you to stay in a hospital.
- Anti-inflammatory medicines can help reduce swelling in your airways due to ongoing infections. These medicines may be inhaled or oral.
- Bronchodilators help open the airways by relaxing the muscles around them. These medicines are inhaled. They're often taken just before chest physical therapy to help clear mucus out of your airways. You also may take bronchodilators before inhaling other medicines into your lungs.
- Your doctor may prescribe medicines to reduce the stickiness of your mucus and loosen it up. These medicines can help clear out mucus, improve lung function, and prevent worsening lung symptoms.
Treatments for Advanced Lung Disease
- If you have advanced lung disease, you may need oxygen therapy.
- If other treatments have not worked, a lung transplant may be an option if you have severe lung disease. A lung transplant is surgery to remove a person's diseased lung and replace it with a healthy lung from a deceased donor.
Pulmonary Rehabilitation
Pulmonary rehabilitation is a broad program that helps improve the well-being of people who have chronic (ongoing) breathing problems.
PR does not replace medical therapy. Instead, it is used with medical therapy and may include:
- Exercise training
- Nutritional counseling
- Education on your lung disease or condition and how to manage it
- Energy-conserving techniques
- Breathing strategies
- Psychological counseling and/or group support
Treatment for Digestive Problems
- Nutritional therapy can improve your strength and ability to stay active. It also can improve growth and development in children. Nutritional therapy also may make you strong enough to resist some lung infections. A nutritionist can help you create a nutritional plan that meets your needs.
- Oral pancreatic enzymes to help you digest fats and proteins and absorb more vitamins
- Supplements of vitamins A, D, E, and K to replace the fat-soluble vitamins that your intestines can not absorb
- High-calorie shakes to provide you with extra nutrients
- A high-salt diet or salt supplements that you take before exercising
- A feeding tube to give you more calories at night while you are sleeping. The tube may be threaded through your nose and throat and into your stomach. Or, the tube may be placed directly into your stomach through a surgically made hole. Before you go to bed each night, you will attach a bag with a nutritional solution to the entrance of the tube. It will feed you while you sleep.
- Sometimes surgery is needed to remove an intestinal blockage.
- Medicines to reduce your stomach acid and help oral pancreatic enzymes work better.
Where to find Medical Care for Cystic fibrosis?
Medical care for cystic fibrosis can be found here.
Prevention
- There is no known way for the primary prevention of cystic fibrosis.
What to Expect (Outlook/Prognosis)?
- Life expectancy of patients with cystic fibrosis has been increased over past decades because of better symptomatic treatment strategies.
- In patients with cystic fibrosis, lung complications are currently the primary causes of morbidity and are responsible for 80% of mortality.
- At present time survival probability of children is 40-50 years
Possible Complications
Lung involvement:
- Sinusitis (inflammation of sinuses)
- Airway obstruction
- Hemoptysis
- Respiratory failure
Gastrointestinal involvement:
- Maldigestion and malabsorption of nutrients, followed by sequelae of malnutrition (permanent stunting of stature, cognitive dysfunction and more rapid decline in pulmonary function)
- Pancreatitis (inflammation of pancreas)
- Gastroesophageal reflux disease
- Constipation/ obstipation
- Cholelithiasis (gallstone)
- Malabsorption
Reproductive system involvement:
- In cystic fibrosis 98% of men are infertile.