Cystic fibrosis (CF) is a serious genetic condition that causes severe damage to the respiratory and digestive systems. This damage often results from a buildup of thick, sticky mucus in the organs.
The most commonly affected organs include the:
囊性纤维化基金会称,更多than30,000peoplein the United States have cystic fibrosis, and another 1,000 people are diagnosed with it every year. CF is a progressive condition, so it gets worse over time.
常规的日常护理可以帮助管理CF，但是没有一个治疗计划对每个人都有效。有了特定于您需求的治疗计划，您仍然可以过着充实的生活，上学并从事职业。
In this article, we take a look at the symptoms, causes, diagnosis, and treatment of cystic fibrosis.
Cystic fibrosis affects the cells that produce sweat, mucus, and消化酶。通常，这些液体像橄榄油一样薄又光滑。它们可以润滑您的器官和组织，使其无法过于干燥。
If you have CF, a genetic mutation increases the thickness of mucus and other body fluids. When this happens, the thicker fluids can interrupt the function of organs — like the movement of air through your lungs. This can trap bacteria and lead to infections.
In more advanced cases, people with CF may have complications likerespiratory failureand营养不良。
立即获得CF治疗至关重要。早期诊断和治疗可以改善生活质量并延长人的寿命。
Screening tests and treatment methods have improved in recent years, so many people with CF can now live into their 40s and 50s.
The symptoms of cystic fibrosis can vary depending on the person and the severity of their condition. The age at which symptoms develop can also differ.
症状可能出现在infancy，但对于其他儿童，症状可能要等到青春期甚至以后的生活之后才开始。随着时间的流逝，与疾病相关的症状可能会变得更好或恶化。
One of the first signs of CF is a strong, salty taste to the skin. Parents of children with CF have mentioned noticing this saltiness when kissing their children.
CF的其他症状是由影响：
- 肺
- pancreas
- liver
- 其他腺器官
Respiratory problems
The thick, sticky mucus associated with CF often blocks the passageways that carry air into and out of the lungs. This can cause the following symptoms:
- wheezing
- persistent coughthat produces thick mucus or phlegm
- shortness of breath，尤其是在运动时
- recurrent肺部感染
- stuffy nose
- 闷闷不乐
消化问题
The abnormal mucus can also plug the channels that carry the enzymes produced by the pancreas to the small intestine. Without these digestive enzymes, the intestine can’t absorb the necessary nutrients from food. This can result in:
- greasy, foul-smelling stools
- constipation
- nausea
- abdominal swelling
- loss of appetite
- insufficient weight gain in children
- delayed growth in children
CF是由于所谓的“囊性纤维化跨膜电导调节剂”基因的缺陷而发生的，或CFTR基因。This gene controls the movement of water and salt in and out of your body’s cells.
A sudden mutation, or change, in theCFTRgene causes your mucus to become thicker and stickier than it’s supposed to be.
这种异常粘液增加了汗水中的盐量，并在整个身体的各种器官中积聚，包括：
- 肠
- pancreas
- liver
- 肺
不同的缺陷会影响CFTR基因。缺陷的类型与CF的严重程度有关。受损的基因被父母传递给孩子。
为了拥有CF，孩子必须从每个亲生父母那里继承一个基因的副本。如果他们只从一个父母那里继承了基因的副本，他们就不会发展这种疾病。但是，他们会成为carrierof the defective gene, which means they may pass the gene on to their own biological children.
How likely you are to inherit CF depends on several factors.
Anyone can inherit CF if their parents carry the gene. However, carriers usually have just one copy of a defective gene and may never experience symptoms or even know they carry the gene.
According to the Cystic Fibrosis Foundation, about10 million peoplein the United States are carriers of the gene for CF, yet only about30,000have active disease.
Although carriers won’t have active disease, the children of two carriers have a much higher risk. To be exact, if both your parents carry the cystic fibrosis gene, there is a:
- 25％chance you will have CF
- 50 percent机会您将成为载体，但不会发展CF
- 25％that you won’t carry the gene or develop CF
In terms of ancestry or ethnic backgrounds, a
具有CF家族史的人也有增加的风险，因为这是一种遗传性疾病。
The diagnosis of CF requires clinical symptoms consistent with CF in at least one organ system and evidence ofCFTRdysfunction. This evidence is usually based on abnormal results from a汗水测试或突变中存在CFTR基因。
Clinical symptoms are not required for infants identified through newborn screening. Other diagnostic tests that may be performed include:
- Immunoreactive trypsinogen (IRT) test.The IRT test is a standard newborn screening test that checks the blood for abnormal levels of the protein called IRT. A high level of IRT may be a sign of CF. However, further testing is required to confirm the diagnosis.
- 汗水测试。The汗水测试是最常用的测试诊断CF。It checks for increased levels of salt in the sweat. The test is performed by using a chemical that makes the skin sweat when triggered by a weak electric current. Sweat is collected on a pad or paper and then analyzed. A diagnosis of CF is made if the sweat is saltier than normal.
- Sputum test.During a sputum test, the doctor takes a sample of mucus. The sample can confirm the presence of a lung infection. It can also show the types of germs that are present and determine which antibiotics work best to treat them.
- Chest X-ray.Achest X-ray由于呼吸道阻塞而导致肺部肿胀很有用。
- CT扫描。ACT扫描使用从不同方向拍摄的X射线组合创建身体的详细图像。这些图像使您的医生可以查看内部结构，例如肝脏和胰腺，从而更容易评估CF造成的器官损害的程度。
- Pulmonary function tests (PFTs).pftsdetermine whether your lungs are working properly. The tests can help measure how much air can be inhaled or exhaled and how well the lungs transport oxygen to the rest of the body. Any abnormalities in these functions may indicate CF.
虽然有no cure for CF, there are various treatments available that may help relieve symptoms and reduce the risk of complications.
药物
- Antibiotics.医生可以开处方抗生素摆脱肺部感染并防止未来感染。通常将抗生素作为液体，片剂或胶囊给出。在更严重的情况下，可以静脉注射或输注抗生素（通过静脉）给予。
- 粘液稀释剂。These make the mucus thinner and less sticky. They also help you cough up the mucus so it leaves the lungs. This significantly improves lung function.
- Nonsteroidal anti-inflammatory drugs (NSAIDs).NSAIDs, such as布洛芬（Advil）, have a limited role as an agent to reduce airway inflammation. The囊性纤维化Foundation建议在儿童中使用大剂量布洛芬ages 6 through 17with CF who have good lung function. Ibuprofen is not recommended for people with more severe lung function abnormalities or those who are older than age 18.
- Bronchodilators.支气管扩张剂放松将空气带到肺部的管周围的肌肉，这有助于增加气流。您可以通过吸入器或nebulizer。
- Cystic fibrosis transmembrane conductance regulator (CFTR) modulators.CFTR调节剂是一类药物，可以改善有缺陷的功能CFTR基因。These drugs represent an important advance in the management of CF because they target the function of the mutatedCFTRgene rather than its clinical effects. All patients with CF should undergoCFTRgene studies to determine if they carry one of the mutations approved for CFTR modulator drugs. Most of the available data are in patients less than 12 years old and in patients with mild or moderate CF lung disease.
Surgical procedures
- 肠道手术。This is an emergency surgery that involves the removal of a section of the bowel. It may be performed to relieve a blockage in the bowels.
- Feeding tube.Cystic fibrosis may interfere with digestion and keep you from absorbing nutrients from food. A feeding tube to supply nutrition can be passed through the nose or surgically inserted directly into the stomach.
- 双肺移植。When trying to medically manage your CF can no longer maintain lung health and function, thisprocedure可以改善CF患者的生活时间和质量。
Transplant benefits
A肺移植may be an option to improve and extend your life. However, the CF gene mutation will remain in your body, affecting other organs even after you’ve received new lungs.
权衡移植作为一种选择时，也有许多事情要考虑。有风险和拒绝器官的风险，您将不得不接受medicationsthat suppress your immune system for the rest of your life.
Chest physical therapy
胸部疗法有助于松开肺部浓稠的粘液，使咳嗽更容易。通常每天执行1到4次。
A common technique involves placing the head over the edge of a bed and clapping with cupped hands along the sides of the chest.
机械设备也可以用于清除粘液。这些包括：
- a chest clapper, which imitates the effects of clapping with cupped hands along the sides of the chest
- an inflatable vest, which vibrates at a high frequency to help remove chest mucus
家庭护理
CF can prevent the intestines from absorbing necessary nutrients from food.
If you have CF, you might need more calories per day than people who don’t the disease. You may also need to takepancreatic enzyme capsules每顿饭。
您的医生也可能建议抗酸剂,多种维生素, and a diet high in fiber and salt.
If you have CF, it’s important to:
- Drink plenty of fluids, because they can help thin the mucus in the lungs.
- Exercise regularly to help loosen mucus in the airways. Walking, biking, and swimming are great options.
- Avoid smoke, pollen, and mold whenever possible. These irritants can make symptoms worse.
- 得到influenzaandpneumonia定期接种疫苗。
CF无法预防。但是，应针对患有CF或患有该疾病的亲戚的夫妇进行基因检测。
Genetic testing can determine a child’s risk of CF by testing samples of blood or saliva from each parent. Tests can also be performed on you if you’re孕and concerned about your baby’s risk.
The outlook for people with CF has improved dramatically in recent years, largely due to advances in treatment. Today, many people with the disease live into their 40s and 50s, and even longer in some cases.
However, there’s no cure for CF, so lung function will steadily decline over time. The resulting damage to the lungs can cause severe breathing problems and other complications.
Next steps
If you or a loved one are believed to have CF, the first steps you should take are to confirm the diagnosis and to become educated on the condition.
A number of tests can be performed to confirm a diagnosis, and your doctor or healthcare professional should be able to discuss how advanced your condition is and what treatment plans will work best.
虽然无法治愈CF，但some facilitiesthat provide more specialized CF care. Additionally, you will want to make sure to maintain your health and preserve your strength by doing things like:
- practicing strict hygiene to avoid infection
- 避免生病的人
- making sure you have adequate nutrition
It takes a whole team of healthcare professionals, a good support system, and the cooperation of employers, schools, and insurers to get people with CF the care they need.
There are a number of online resources and even online or localsupport groups这可以帮助您或您所爱的人应对与之相处或照顾的人的需求。