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Cystic fibrosis (CF)CCystic fibrosis (CF)Cystic fibrosis (CF)EnglishGeneticsChild (0-12 years);Teen (13-18 years)Lungs;PancreasPancreas;LungsConditions and diseasesCaregivers Adult (19+)NA2014-04-25T04:00:00Z7.4000000000000067.00000000000001341.00000000000Health (A-Z) - ConditionsHealth A-Z<p>Learn what causes cystic fibrosis, what the signs and symptoms are, and what treatments are available.</p><h2>What is cystic fibrosis?</h2><p>Cystic fibrosis or CF is a disease that mainly affects the <a href="https://pie.med.utoronto.ca/htbw/module.html?module=lung-child">lungs</a> and digestive system (or digestive tract). Although CF can be treated and CF patients can usually lead fairly normal lives, there is no cure for CF. Today, half of Canadians with CF live into their 40s and beyond.</p> <figure> <span class="asset-image-title">Cystic fibrosis</span> <img src="https://assets.aboutkidshealth.ca/akhassets/Cystic_fibrosis_MED_ILL_EN.jpg" alt="Stomach, pancreas, small intestine and lung identified in upper body of a child, with a close-up showing mucus in the airways" /> <figcaption class="asset-image-caption">In cystic fibrosis, mucus in the lungs and digestive tract is stickier than normal. Mucus builds up and causes lung congestion and problems with digestion.</figcaption> </figure> <h3>CF affects the lungs</h3><p>Normal mucus is thin and slippery. It keeps the lungs clean by removing dirt and germs from the lungs' airway tubes. In CF, mucus is sticky and clogs the tubes. This can make breathing difficult. Bacteria can collect in the tubes because the mucus cannot clear as quickly as it should. This leads to cycles of infection and inflammation (swelling in the airway tubes). These infections can damage the lung tissues.</p><h3>CF may also affect the digestive system</h3><p>CF may also affect the digestive system, especially the pancreas. The pancreas is an organ just below the stomach that makes enzymes to help digest food in the small intestine. Enzymes help with digestion and break down the food particles small enough to be absorbed. In CF, mucus blocks the ducts (tube-like channels that carry fluid) of the pancreas.</p><p>When the ducts from the pancreas to the small intestine are blocked by mucus, the enzymes cannot reach the small intestine. This means food is not properly digested. When this happens, a child with CF does not get enough nutrition from their food. As a result, a child with CF may take replacement enzymes in order to grow normally and may have to eat a bit more food.</p><h2>Key points</h2> <ul> <li>CF is a genetic disease that affects the lungs and digestive system.</li> <li>It is not contagious.</li> <li>With treatment and regular follow-up, most children with CF can live fairly normal lives.</li> </ul><h2>Signs and symptoms of cystic fibrosis</h2> <p>In most children, CF mainly affects both the lungs and the digestive system. The symptoms of CF are variable ranging from mild to severe.</p> <h3>Signs and symptoms of CF include:</h3> <ul> <li>trouble breathing</li> <li>cough that produces thick mucus</li> <li>difficulty gaining weight</li> <li>bowel movements that are bulky, frequent and foul-smelling</li> <li>skin that tastes salty</li> <li>repeated lung infections</li> <li>delayed passage of <a href="/Article?contentid=1115&language=English">meconium</a> or meconium ileus (a blockage in the small intestine by the newborn's feces)</li> </ul> <p>The symptoms of CF are often confused with other conditions such as asthma, chronic bronchitis, pneumonia or celiac disease because they have similar symptoms as CF.</p><h2>Cystic fibrosis is a genetic disease</h2><p>About one in every 3,600 children are born with CF. CF is a genetic disease, meaning it is passed from parents to their children. About one in every 25 Canadians carries the mutated gene that can cause CF. The probability may be lower depending on your ethnic background.</p><p>A gene is a section of DNA that gives an instruction to a cell. Most of the time, the instruction is a "recipe" for making a protein.</p><p>CF is caused by a mutation in the gene for the CFTR (cystic fibrosis transmembrane conductance regulator) protein. CF is a recessive genetic condition. This means that a person needs to have two copies of the mutated gene to develop CF. People with only one copy of the CF mutation are called "carriers" and do not have symptoms. Most parents do not know they are carriers of the CF gene. To develop CF, a child must inherit two copies of the CF gene, one from each parent.<br></p><p>Two parents with the CF gene may have children with CF, children who are carriers or children who are not. The risk of having a child with CF is the same with each pregnancy.</p><p>CF is not contagious. You cannot catch it from someone else.</p> <figure class="asset-c-80"> <span class="asset-image-title">Inheritance of cystic fibrosis</span> <img src="https://assets.aboutkidshealth.ca/akhassets/Cystic_fibrosis_inheritance_MED_ILL_EN.jpg" alt="Chromosome distribution from parents carrying cystic fibrosis" /> <figcaption class="asset-image-caption">In this example, both parents are carriers of one normal cystic fibrosis (CF) gene and one mutated CF gene. Their children may inherit one, two, or no copies of the CF gene. If a baby inherits one copy of the mutated gene, they will be carriers like their parents, but will not have CF. If a baby inherits two mutated copies, they will have CF.</figcaption> </figure><h2>How cystic fibrosis is diagnosed</h2> <p>In almost all of Canada, babies are diagnosed with CF in the first two weeks of life through the <a href="http://www.sickkids.ca/CGenetics/What-we-do/Newborn-screening-program/index.html">Newborn Screening Program</a>.</p> <ul> <li>Genetic tests are used to diagnosis CF. Genetic tests can diagnose CF before a child is born.</li> <li>Shortly after a baby is born, the doctor may take a small sample of blood from the baby as part of the newborn screening program. Testing starts by looking for an enzyme called IRT. If the level of IRT is high, the doctor will perform a DNA test looking for the most common CF mutations. If the screen is positive, the doctor will refer your child to a specialist centre for confirmation and follow-up.</li> <li>Doctors usually order a sweat test if they suspect CF. This is a simple test that measures the amount of salt in the sweat. It will not hurt your child. Heat or medicine is applied to a local (small) area of the skin. If the sweat contains more salt than usual, this may mean your child has CF.</li> <li>Doctors may perform a test to check for enzymes in the intestine.</li> </ul><h2>How cystic fibrosis is treated</h2> <p>There is no cure for CF. With appropriate treatment and regular follow-up, most children with CF can live fairly normal lives up to at least their 40s.</p> <p>CF treatment is tailored to your child's needs. It also depends upon the stage of the disease and which organs are affected.</p> <h3>Treating the lungs</h3> <p>A lot of CF treatments focus on the lungs. The treatments work to loosen and thin the mucus that clogs the airways. Chest X-rays may be taken to see if there are any changes in the lungs.</p> <h3>Treatments followed at home may include:</h3> <ul> <li>Physiotherapy is done by tapping or "clapping" on the chest in different positions twice a day for babies and young children.</li> <li>PEP (positive expiratory pressure) mask therapy is taught to older children and adults with CF to help clear their lungs.</li> <li>Other forms of chest physiotherapy to help loosen the mucus that clogs the lungs can also be taught by the clinic physiotherapist.</li> <li>Oral (through the mouth), inhaled (breathing) or intravenous (IV or using a needle) antibiotics are often used when someone with CF has a lung infection.</li> <li><a href="/Article?contentid=1973&language=English">Exercise</a>.</li> <li>Medications to help open the airways and thin mucus are inhaled using a puffer or a small compressor machine with a nebulizer, which makes the medication easy to inhale through a mask or a mouthpiece.</li> </ul> <h3>To avoid infection, children with CF should also:</h3> <ul> <li>Avoid contact with people with a cold or illness</li> <li>Avoid contact with other people with CF</li> <li>Have their usual <a href="/Article?contentid=1986&language=English">immunizations</a> (shots)</li> </ul> <p>In some cases, when treatments can no longer maintain a person's health or organ function, the person may require a lung transplant.</p> <h3>Treatments for the digestive tract include:</h3> <ul> <li>taking pancreatic enzymes with meals to help digestion</li> <li>taking supplements and special CF vitamins to promote good nutrition</li> <li>eating a special diet with increased calories and fat</li> <li>adding salt to the diet to replace the excess amounts lost by sweating</li> </ul><h2>For more information</h2><p>Visit:</p><ul><li> Cystic Fibrosis Canada: <a href="http://www.cysticfibrosis.ca/">www.cysticfibrosis.ca</a></li><li> The Cystic Fibrosis Foundation: <a href="http://www.cff.org/">www.cff.org</a></li><li> Canadian Society for Exercise Physiology: <a href="http://www.csep.ca/english/view.asp?x=804/">www.csep.ca</a>; see Physical Activity option.</li><li> Newborn Screening for Cystic Fibrosis: <a href="http://www.cysticfibrosis.ca/advocacy/newborn-screening/">www.cysticfibrosis.ca/advocacy/newborn-screening</a><br></li></ul>
Fibrose kystique (mucoviscidose)FFibrose kystique (mucoviscidose)Cystic fibrosis (CF)FrenchGeneticsChild (0-12 years);Teen (13-18 years)Lungs;PancreasPancreas;LungsConditions and diseasesCaregivers Adult (19+)NA2014-04-25T04:00:00Z8.0000000000000067.00000000000001318.00000000000Health (A-Z) - ConditionsHealth A-Z<p>Apprenez ce qui cause la fibrose kystique, quels en sont les signes et les symptômes, et les traitements offerts.</p><h2>Qu’est-ce que la fibrose kystique?</h2><p>La fibrose kystique (aussi appelée mucoviscidose) est une maladie qui touche principalement <a href="https://pie.med.utoronto.ca/htbw/module.html?module=lung-child">les poumons​</a> et l’appareil digestif. Bien qu’elle puisse être traitée et que les personnes qui en sont atteintes puissent habituellement avoir une vie normale, elle ne se guérit pas. De nos jours, la moitié des Canadiens touchés ont une espérance de vie de plus de 40 ans.<br></p> <figure><span class="asset-image-title">Fibrose kystique</span><img src="https://assets.aboutkidshealth.ca/akhassets/Cystic_fibrosis_MED_ILL_FR.jpg" alt="Poumon, estomac, pancréas et intestin grêle dans un enfant, et une illustration du mucus dans les voies respiratoires" /><figcaption class="asset-image-caption">Chez les personnes atteintes de fibrose kystique, le mucus présent dans les poumons et le tube digestif est plus visqueux que la normale. Il s’y accumule et entraîne une congestion pulmonaire et des troubles digestifs.</figcaption> </figure> <h3>La fibrose kystique touche les poumons</h3><p>Le mucus normal est fluide et s’écoule donc facilement. Il nettoie les poumons en éliminant les saletés et les microbes de leurs voies aériennes. Chez les personnes atteintes de fibrose kystique, le mucus est visqueux et obstrue ces voies, ce qui peut nuire à la respiration. De plus, des bactéries peuvent s’accumuler dans les voies aériennes puisque le mucus ne peut pas s’en écouler aussi rapidement qu’il le devrait. Cela provoque des cycles d’infection et d’inflammation (gonflement des voies aériennes) pouvant endommager les tissus pulmonaires.</p><h3>La fibrose kystique peut aussi toucher l’appareil digestif</h3><p>La fibrose kystique peut aussi toucher l’appareil digestif, en particulier le pancréas. Ce dernier est un organe situé juste au-dessous de l’estomac qui produit des enzymes facilitant la digestion des aliments dans l’intestin grêle. Ces enzymes favorisent non seulement la digestion des aliments, mais également leur décomposition en particules assez petites pour être absorbées. Chez les personnes ayant la fibrose kystique, le mucus bloque les canaux assurant l’acheminement des liquides du pancréas vers l’intestin grêle. Les enzymes ne peuvent pas alors être libérées dans l’intestin grêle et les aliments ne sont donc pas entièrement digérés.</p><p>Lorsque ce blocage survient, les enfants atteints de fibrose kystique n’absorbent pas assez d’éléments nutritifs des aliments qu’ils consomment. Par conséquent, ils peuvent prendre des enzymes de substitution afin de bénéficier d’une croissance normale et avoir à manger un peu plus.</p><h2>À retenir</h2> <ul> <li>La fibrose kystique une maladie génétique touchant les poumons et l’appareil digestif.</li> <li>Elle n’est pas contagieuse.</li> <li>Grâce à un traitement approprié et à des suivis réguliers, la plupart des enfants touchés peuvent avoir une vie relativement normale.</li> </ul><h2>Symptômes de la fibrose kystique</h2> <p>Chez la plupart des enfants, la fibrose kystique touche principalement les poumons et l’appareil digestif. Les symptômes varient de légers à graves.</p> <h3>Les symptômes de la fibrose kystique sont les suivants :</h3> <ul> <li>difficulté à respirer</li> <li>toux avec expulsion de mucus épais</li> <li>difficulté à prendre du poids</li> <li>selles volumineuses, fréquentes et puantes</li> <li>peau salée au goût</li> <li>infections pulmonaires à répétition/li> </li><li>évacuation tardive du<a href="/Article?contentid=1115&language=French">méconium </a> ou iléus méconial (obstruction de l’intestin grêle par les selles du nouveau-né).</li> </ul> <p>On confond souvent les symptômes de la fibrose kystique avec ceux d’autres maladies dont certains sont semblables comme l’asthme, la bronchite chronique, la pneumonie ou la maladie cœliaque.</p><h2>La fibrose kystique est une maladie génétique</h2><p>Environ un enfant sur 3 600 est atteint de fibrose kystique à la naissance. Cette maladie est génétique, ce qui signifie qu’elle est transmise aux enfants par leurs parents. Au Canada, environ une personne sur 25 est porteuse du gènemuté pouvant causer la fibrose kystique. La probabilité qu’une personne soit porteuse varie selon ses antécédents ethniques.</p><p>Un gène est une portion d'ADN qui transmet une instruction à une cellule. En règle générale, l’instruction est une « recette » pour fabriquer une protéine.</p><p>La fibrose kystique est causée par la mutation génique de la protéine régulatrice de la perméabilité transmembranaire de la fibrose kystique (CFTR pour cystic fibrosis transmembrane conductance regulator). Il s’agit d’une maladie héréditaire récessive, ce qui signifie qu’une personne doit posséder deux copies du gène modifié pour souffrir de fibrose kystique. Les personnes n’ayant qu’une copie de ce gène sont dites « porteuses » et ne présentent aucun symptôme. La plupart des parents ne savent pas qu’ils sont eux-mêmes porteurs du gène de la fibrose kystique. Un enfant doit hériter de deux copies, soit une de chaque parent pour que la maladie se manifeste chez lui.</p><p>Deux parents porteurs du gène peuvent avoir des enfants atteints de la fibrose kystique ou porteurs ou non de son gène. Le risque d’avoir un enfant souffrant de fibrose kystique est le même pour chaque grossesse. </p><p>La fibrose kystique n’est pas contagieuse, c’est-à-dire qu’elle ne peut pas être transmise par une personne qui en est atteinte.</p> <figure class="asset-c-80"> <span class="asset-image-title">Transmission de la fibrose kystique</span><img src="https://assets.aboutkidshealth.ca/akhassets/Cystic_fibrosis_inheritance_MED_ILL_FR.jpg" alt="Distribution des chromosomes des parents porteurs de la fibrose kystique" /><figcaption class="asset-image-caption">Dans cet exemple, les deux parents sont porteurs de deux gènes de la fibrose kystique, l'un normal et l'autre muté. Leurs enfants peuvent hériter d’une, de deux copies du gène ou d’aucune. Si un bébé hérite d’une copie mutée, il sera porteur du gène de la fibrose kystique tout comme ses parents, mais il ne sera pas atteint de la maladie. Si un bébé hérite de deux copies mutées, il en sera atteint.</figcaption> </figure><h2>Comment la fibrose kystique est-elle diagnostiquée?</h2><p>Presque partout au Canada, le diagnostic de fibrose kystique chez les bébés se fait dans les deux semaines suivant la naissance grâce au <a href="http://www.sickkids.ca/CGenetics/What-we-do/Newborn-screening-program/index.html">Programme de dépistage néonatal/a>(site en anglais seulement).</a></p><ul><li>Les médecins ont recours à des tests génétiques pour diagnostiquer la fibrose kystique. Ces tests peuvent être réalisés avant la naissance.</li><li>Peu après la naissance, votre médecin pourrait prélever un petit échantillon de sang de votre bébé aux fins du programme de dépistage néonatal. Il fera d’abord le dosage de l’enzyme TIR (trypsine immunoréactive) dans le sang. Si cette valeur est élevée, il analysera l’ADN de votre bébé afin de dépister les mutations les plus courantes du gène de la fibrose kystique. Si les résultats du dépistage sont positifs, il vous renverra à un centre spécialisé en fibrose kystique pour la confirmation du diagnostic et un suivi.</li><li>Les médecins commandent habituellement un test à la sueur s’ils soupçonnent qu’un enfant est atteint de fibrose kystique. Ce test, qui consiste simplement à mesurer la quantité de sel dans la sueur, n’est pas douloureux. De la chaleur ou un médicament sont appliqués localement (sur une petite zone de la peau). Le fait que, par la suite, la sueur contienne plus de sel qu’à la normale peut indiquer que votre enfant est atteint de fibrose kystique.</li><li>Enfin, les médecins peuvent soumettre votre bébé à un test servant à déterminer si des enzymes sont présentes dans l’intestin.</li></ul><br><h2>Traitement de la fibrose kystique</h2><p>La fibrose kystique est incurable. Cela signifie que l'on ne peut pas en guérir. Toutefois, grâce à un traitement approprié et à des suivis réguliers, la plupart des enfants touchés peuvent avoir une vie relativement normale jusque dans la quarantaine au moins.</p><p>Le traitement de votre enfant sera adapté à ses besoins. Il sera aussi fonction du stade d’évolution de la maladie et des organes atteints.</p><h3>Traitement des poumons</h3><p>Bon nombre de traitements de la fibrose kystique sont axés sur les poumons. Ils visent alors à dégager le mucus obstruant les voies respiratoires et à en augmenter la fluidité. Des radiographies de la poitrine peuvent être faites pour déceler des changements éventuels aux poumons.</p><h3>Les traitements à domicile peuvent comprendre les suivants :</h3><ul><li>Physiothérapie : chez les bébés et les enfants très jeunes, elle consiste à taper sur la poitrine (percussions thoraciques) dans diverses positions deux fois par jour. </li><li>Thérapie à pression expiratoire positive (PEP) : on enseigne aux enfants plus âgés et aux adultes à bien utiliser un masque pour dégager leurs poumons. </li><li>Autres formes de physiothérapie : le physiothérapeute du centre peut également enseigner d’autres méthodes permettant de dégager le mucus. Antibiotiques : En cas d’infection, des antibiotiques sont souvent administrés par voie orale, au moyen d’un inhalateur (voies respiratoires) ou par voie intraveineuse (perfusion ou injection).</li><li> <a href="/Article?contentid=1973&language=French">Exercices</a>.</li><li>Médicaments pour dégager les voies respiratoires et rendre le mucus fluide : ces médicaments sont pris au moyen d’un aérosol-doseur ou à l’aide d’un petit compresseur muni d’un nébuliseur pour en faciliter l’inhalation.</li></ul><h3>Pour se protéger contre les infections, les enfants atteints de fibrose kystique doivent:</h3><ul><li>éviter les personnes enrhumées ou malades</li><li>éviter les personnes atteintes de fibrose kystique</li><li>s’assurer d’obtenir leurs <a href="/Article?contentid=1986&language=French">vaccins </a> habituels.</li></ul><p>Dans certains cas, une greffe peut être requise si les traitements ne permettent plus d’assurer un bon état de santé ou le fonctionnement approprié des poumons.</p><h3>Dans certains cas, une greffe peut être requise si les traitements ne permettent plus d’assurer un bon état de santé ou le fonctionnement approprié des poumons.</h3><ul><li>prise d’enzymes pancréatiques avec les repas afin de faciliter la digestion</li><li>prise de vitamines (pour combler les carences propres à la fibrose kystique) et de suppléments pour assurer une bonne nutrition</li><li>régime alimentaire riche en calories et en matières grasses</li><li>ajout de sel à l’alimentation pour combler les pertes excessives dues à la transpiration.</li></ul><h2>Pour plus de renseignements</h2><p>Veuillez consulter les sites suivants :</p><ul><li>Fibrose kystique Canada <a href="http://www.cysticfibrosis.ca/" target="_blank">www.cysticfibrosis.ca</a></li><li>The Cystic Fibrosis Foundation (site en anglais uniquement): <a href="http://www.cff.org/" target="_blank">www.cff.org</a></li><li>Société canadienne de physiologie de l’exercice : <a href="http://www.csep.ca/english/view.asp?x=804" target="_blank">www.csep.ca</a>, voir la section portant sur l’activité physique.</li><li> <a href="http://www.cysticfibrosis.ca/advocacy/newborn-screening/" target="_blank">Programme de dépistage néo​natal de la fibrose kystique​ </a>(en anglais seulement).</li></ul>
موروثی بیماری پھیپھڑوں کو ختم کرنے والی ایسی موروثی بیماری جو دوسرے اعضاء کوبھی متاثر کرتی ہے۔(Cystic Fibrosis)مموروثی بیماری پھیپھڑوں کو ختم کرنے والی ایسی موروثی بیماری جو دوسرے اعضاء کوبھی متاثر کرتی ہے۔(Cystic Fibrosis)Cystic Fibrosis (CF)UrduNAChild (0-12 years);Teen (13-18 years)NANANAAdult (19+)NA2009-11-06T05:00:00Z70.00000000000007.00000000000000815.000000000000Flat ContentHealth A-Zاس بارے میں جانیں کہ موروثی بیماری کے کیا اسباب ہیں، کیا نشانیاں اور علامات ہیں، اور کیا علاج موجود ہیں

 

 

 

 

Cystic fibrosis (CF)882.000000000000Cystic fibrosis (CF)Cystic fibrosis (CF)CEnglishGeneticsChild (0-12 years);Teen (13-18 years)Lungs;PancreasPancreas;LungsConditions and diseasesCaregivers Adult (19+)NA2014-04-25T04:00:00Z7.4000000000000067.00000000000001341.00000000000Health (A-Z) - ConditionsHealth A-Z<p>Learn what causes cystic fibrosis, what the signs and symptoms are, and what treatments are available.</p><h2>What is cystic fibrosis?</h2><p>Cystic fibrosis or CF is a disease that mainly affects the <a href="https://pie.med.utoronto.ca/htbw/module.html?module=lung-child">lungs</a> and digestive system (or digestive tract). Although CF can be treated and CF patients can usually lead fairly normal lives, there is no cure for CF. Today, half of Canadians with CF live into their 40s and beyond.</p> <figure> <span class="asset-image-title">Cystic fibrosis</span> <img src="https://assets.aboutkidshealth.ca/akhassets/Cystic_fibrosis_MED_ILL_EN.jpg" alt="Stomach, pancreas, small intestine and lung identified in upper body of a child, with a close-up showing mucus in the airways" /> <figcaption class="asset-image-caption">In cystic fibrosis, mucus in the lungs and digestive tract is stickier than normal. Mucus builds up and causes lung congestion and problems with digestion.</figcaption> </figure> <h3>CF affects the lungs</h3><p>Normal mucus is thin and slippery. It keeps the lungs clean by removing dirt and germs from the lungs' airway tubes. In CF, mucus is sticky and clogs the tubes. This can make breathing difficult. Bacteria can collect in the tubes because the mucus cannot clear as quickly as it should. This leads to cycles of infection and inflammation (swelling in the airway tubes). These infections can damage the lung tissues.</p><h3>CF may also affect the digestive system</h3><p>CF may also affect the digestive system, especially the pancreas. The pancreas is an organ just below the stomach that makes enzymes to help digest food in the small intestine. Enzymes help with digestion and break down the food particles small enough to be absorbed. In CF, mucus blocks the ducts (tube-like channels that carry fluid) of the pancreas.</p><p>When the ducts from the pancreas to the small intestine are blocked by mucus, the enzymes cannot reach the small intestine. This means food is not properly digested. When this happens, a child with CF does not get enough nutrition from their food. As a result, a child with CF may take replacement enzymes in order to grow normally and may have to eat a bit more food.</p><h2>Key points</h2> <ul> <li>CF is a genetic disease that affects the lungs and digestive system.</li> <li>It is not contagious.</li> <li>With treatment and regular follow-up, most children with CF can live fairly normal lives.</li> </ul><h2>Signs and symptoms of cystic fibrosis</h2> <p>In most children, CF mainly affects both the lungs and the digestive system. The symptoms of CF are variable ranging from mild to severe.</p> <h3>Signs and symptoms of CF include:</h3> <ul> <li>trouble breathing</li> <li>cough that produces thick mucus</li> <li>difficulty gaining weight</li> <li>bowel movements that are bulky, frequent and foul-smelling</li> <li>skin that tastes salty</li> <li>repeated lung infections</li> <li>delayed passage of <a href="/Article?contentid=1115&language=English">meconium</a> or meconium ileus (a blockage in the small intestine by the newborn's feces)</li> </ul> <p>The symptoms of CF are often confused with other conditions such as asthma, chronic bronchitis, pneumonia or celiac disease because they have similar symptoms as CF.</p><h2>Cystic fibrosis is a genetic disease</h2><p>About one in every 3,600 children are born with CF. CF is a genetic disease, meaning it is passed from parents to their children. About one in every 25 Canadians carries the mutated gene that can cause CF. The probability may be lower depending on your ethnic background.</p><p>A gene is a section of DNA that gives an instruction to a cell. Most of the time, the instruction is a "recipe" for making a protein.</p><p>CF is caused by a mutation in the gene for the CFTR (cystic fibrosis transmembrane conductance regulator) protein. CF is a recessive genetic condition. This means that a person needs to have two copies of the mutated gene to develop CF. People with only one copy of the CF mutation are called "carriers" and do not have symptoms. Most parents do not know they are carriers of the CF gene. To develop CF, a child must inherit two copies of the CF gene, one from each parent.<br></p><p>Two parents with the CF gene may have children with CF, children who are carriers or children who are not. The risk of having a child with CF is the same with each pregnancy.</p><p>CF is not contagious. You cannot catch it from someone else.</p> <figure class="asset-c-80"> <span class="asset-image-title">Inheritance of cystic fibrosis</span> <img src="https://assets.aboutkidshealth.ca/akhassets/Cystic_fibrosis_inheritance_MED_ILL_EN.jpg" alt="Chromosome distribution from parents carrying cystic fibrosis" /> <figcaption class="asset-image-caption">In this example, both parents are carriers of one normal cystic fibrosis (CF) gene and one mutated CF gene. Their children may inherit one, two, or no copies of the CF gene. If a baby inherits one copy of the mutated gene, they will be carriers like their parents, but will not have CF. If a baby inherits two mutated copies, they will have CF.</figcaption> </figure><h2>How cystic fibrosis is diagnosed</h2> <p>In almost all of Canada, babies are diagnosed with CF in the first two weeks of life through the <a href="http://www.sickkids.ca/CGenetics/What-we-do/Newborn-screening-program/index.html">Newborn Screening Program</a>.</p> <ul> <li>Genetic tests are used to diagnosis CF. Genetic tests can diagnose CF before a child is born.</li> <li>Shortly after a baby is born, the doctor may take a small sample of blood from the baby as part of the newborn screening program. Testing starts by looking for an enzyme called IRT. If the level of IRT is high, the doctor will perform a DNA test looking for the most common CF mutations. If the screen is positive, the doctor will refer your child to a specialist centre for confirmation and follow-up.</li> <li>Doctors usually order a sweat test if they suspect CF. This is a simple test that measures the amount of salt in the sweat. It will not hurt your child. Heat or medicine is applied to a local (small) area of the skin. If the sweat contains more salt than usual, this may mean your child has CF.</li> <li>Doctors may perform a test to check for enzymes in the intestine.</li> </ul><h2>How cystic fibrosis is treated</h2> <p>There is no cure for CF. With appropriate treatment and regular follow-up, most children with CF can live fairly normal lives up to at least their 40s.</p> <p>CF treatment is tailored to your child's needs. It also depends upon the stage of the disease and which organs are affected.</p> <h3>Treating the lungs</h3> <p>A lot of CF treatments focus on the lungs. The treatments work to loosen and thin the mucus that clogs the airways. Chest X-rays may be taken to see if there are any changes in the lungs.</p> <h3>Treatments followed at home may include:</h3> <ul> <li>Physiotherapy is done by tapping or "clapping" on the chest in different positions twice a day for babies and young children.</li> <li>PEP (positive expiratory pressure) mask therapy is taught to older children and adults with CF to help clear their lungs.</li> <li>Other forms of chest physiotherapy to help loosen the mucus that clogs the lungs can also be taught by the clinic physiotherapist.</li> <li>Oral (through the mouth), inhaled (breathing) or intravenous (IV or using a needle) antibiotics are often used when someone with CF has a lung infection.</li> <li><a href="/Article?contentid=1973&language=English">Exercise</a>.</li> <li>Medications to help open the airways and thin mucus are inhaled using a puffer or a small compressor machine with a nebulizer, which makes the medication easy to inhale through a mask or a mouthpiece.</li> </ul> <h3>To avoid infection, children with CF should also:</h3> <ul> <li>Avoid contact with people with a cold or illness</li> <li>Avoid contact with other people with CF</li> <li>Have their usual <a href="/Article?contentid=1986&language=English">immunizations</a> (shots)</li> </ul> <p>In some cases, when treatments can no longer maintain a person's health or organ function, the person may require a lung transplant.</p> <h3>Treatments for the digestive tract include:</h3> <ul> <li>taking pancreatic enzymes with meals to help digestion</li> <li>taking supplements and special CF vitamins to promote good nutrition</li> <li>eating a special diet with increased calories and fat</li> <li>adding salt to the diet to replace the excess amounts lost by sweating</li> </ul><h2>Activity</h2> <p>Children with CF are encouraged to play games and sports. Ask your child's doctor how much activity they can do. Sports such as running and swimming are often helpful because they help clear the lungs of mucus.</p> <p>Children with CF lose a lot of salt during exercise and hot weather, more than people without CF do. It is important to make sure your child replaces fluids and salt by drinking enough and eating enough salt.</p><h2>For more information</h2><p>Visit:</p><ul><li> Cystic Fibrosis Canada: <a href="http://www.cysticfibrosis.ca/">www.cysticfibrosis.ca</a></li><li> The Cystic Fibrosis Foundation: <a href="http://www.cff.org/">www.cff.org</a></li><li> Canadian Society for Exercise Physiology: <a href="http://www.csep.ca/english/view.asp?x=804/">www.csep.ca</a>; see Physical Activity option.</li><li> Newborn Screening for Cystic Fibrosis: <a href="http://www.cysticfibrosis.ca/advocacy/newborn-screening/">www.cysticfibrosis.ca/advocacy/newborn-screening</a><br></li></ul><img alt="" src="https://assets.aboutkidshealth.ca/AKHAssets/cystic_fibrosis.jpg" style="BORDER:0px solid;" />https://assets.aboutkidshealth.ca/AKHAssets/cystic_fibrosis.jpgCystic fibrosis (CF)False May is Cystic Fibrosis Month. Learn what causes cystic fibrosis, what the signs and symptoms are, and what treatments are available.

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