What is cystic fibrosis?

囊性纤维化(CF)是一种影响许多器官的遗传性限制生命的疾病. It causes changes in the electrolyte transport system. People with CF have problems with the glands that make sweat and mucus. CF makes mucus thicker. Symptoms start in childhood. On average, people with CF live into their mid to late 30s. But new treatments are increasing life expectancy.

CF affects several organ systems, including:

• Respiratory system

• Digestive system

• Reproductive system

Some people carry the CF gene without being affected by the disease. They often don't know that they are carriers.

How does CF affect the respiratory system?

With CF, there is an abnormal electrolyte transport system. 肺部正常的薄分泌物变得非常厚，难以移动. 这些浓稠的分泌物增加了频繁呼吸道感染的风险.

不断复发的呼吸道感染会对肺部造成更大的损害. Over time, this causes permanent loss of lung function.

Because of the high infection rate in the lower respiratory tract, people with CF may develop a chronic cough and blood in the sputum. The cough is often worse in the morning or after activity. They can develop lung collapse (pneumothorax).

People with CF also have upper respiratory tract symptoms. Some have nasal polyps that need surgery to be removed. Nasal polyps are small bumps of tissue from the lining of the nose. They can block and irritate the nasal cavity. People with CF also have higher rates of sinus infections.

How does cystic fibrosis affect the digestive system?

CF mainly affects the pancreas. 胰腺分泌有助于消化和控制血糖水平的物质.

胰腺的分泌物也会变厚，阻塞胰腺的导管. 这可能会导致胰腺分泌的酶减少，而这些酶通常有助于消化食物. CF患者在吸收蛋白质、脂肪和维生素A、D、E和K方面有困难.

胰腺的问题可能会变得非常严重，以至于胰腺中的一些细胞会死亡. Over time, this may lead to glucose intolerance. It may also lead to cystic fibrosis-related diabetes (CFRD). This is a unique type of insulin-dependent diabetes.

Some CF symptoms may be from its effect on the digestive tract. These include:

• Bulky, greasy stools

• The lower end of the bowel comes out of the anus (rectal prolapse)

• Delayed puberty

• Fat in the stools

• Stomach pain

• Bloody diarrhea

The liver may also be affected. A small number of people may develop liver disease. Symptoms of liver disease include:

• Enlarged liver

• Swollen belly

• Yellow color to the skin (jaundice)

• Vomiting blood

How does CF affect the reproductive system?

Most males with CF have blockage of the sperm canal. This is called congenital bilateral absence of the vas deferens (CBAVD). 这是由于粘稠的分泌物堵塞了输精管，使它们不能正常发育. It causes infertility because sperm can't travel out of the body. Some newer methods allow men with CF to have children. Discuss these with your healthcare provider. 患有CF的女性宫颈粘液增加，这可能导致生育能力下降. They may also have irregular ovulation. Many women with CF can have children.

What causes cystic fibrosis?

CF is a genetic disease. This means that CF is inherited.

CFTR(囊性纤维化跨膜传导调节基因)基因的改变(突变)导致CF. CFTR突变导致人体电解质运输系统发生变化. 电解质是血液中对细胞功能至关重要的物质. 这些运输系统变化的主要结果体现在身体分泌物中, such as mucus and sweat.

The CFTR gene is large and complex. Many different mutations in this gene have been linked to CF.

只有遗传了两个CF基因，一个来自母亲，一个来自父亲，一个才会出生患有CF.

Who is at risk for cystic fibrosis?

Cystic fibrosis is inherited. A person with CF had both parents pass the changed gene to them. The birth of a child with CF is often a total surprise to a family. Most of the time there is no family history of CF. 白种人比非洲人、亚洲人或西班牙裔更容易患CF.

What are the symptoms of cystic fibrosis?

Symptoms can be different for each person. The severity of symptoms can vary, too. Symptoms may include:

• 堵塞某些器官如肺、胰腺和肠的粘稠粘液. This may cause:

  • Malnutrition

  • Poor growth

  • Frequent lung infections

  • Breathing problems

  • Chronic lung disease

Many other health problems can point to cystic fibrosis, as well. These include:

• Sinusitis

• Nasal polyps

• Clubbed fingers and toes. 这意味着由于血液中的氧气减少，指尖和脚趾变厚.

• Collapsed lung, often due to intense coughing

• Coughing up blood

• 由于肺部压力增大而引起的右侧心脏增大(肺心病)

• Belly pain

• Too much gas in the intestines

• The lower end of the bowel comes out of the anus (rectal prolapse)

• Liver disease

• Diabetes

• 胰腺炎胰腺的炎症(胰腺炎)，引起腹部剧烈疼痛

• Gallstones

• Congenital bilateral absence of the vas deferens (CBAVD) in males. This causes blockages of the sperm canal.

Babies born with CF often show symptoms by age 2. But some children may not show symptoms until later in life. The following symptoms may mean a child has CF. Babies with these signs may have more testing for CF:

• Diarrhea that does not go away

• Bad-smelling stools

• Greasy stools

• Frequent wheezing

• Frequent pneumonia or other lung infections

• Persistent cough

• Skin that tastes like salt

• Poor growth despite having a good appetite

The symptoms of CF may seem like other conditions or health problems. See a healthcare provider for a diagnosis.

How is cystic fibrosis diagnosed?

All U.S. states require that newborns be tested for CF. This means that parents can know if their baby has the disease. They can take precautions and watch for early signs of problems. Most cases of cystic fibrosis are found during newborn screening. Babies will have a full health history and physical exam.

CF的测试包括汗液测试，以测量存在的盐(氯化钠)的量. 如果一个人有CF的症状，或者如果新生儿筛查表明婴儿可能患有CF，则可以使用该测试. Higher than normal amounts of sodium chloride suggest CF. Other tests depend on which body system is affected. These tests may include:

• Chest X-rays, ultrasound, and CT scans

• Blood tests

• Lung function tests

• Sputum cultures

• Stool tests

For babies who don't make enough sweat, blood tests may be used.

How is cystic fibrosis treated?

There is currently no cure for CF. Scientists are investigating gene therapy. 一些患有晚期疾病的人可能会考虑进行手术，如肺和胰腺移植.

Goals of treatment are to ease symptoms, prevent and treat complications, and slow the progress of the disease.

Treatment generally focuses on the following 2 areas.

Managing lung problems

This may include:

• Physical therapy

• 气道清除治疗，包括胸部物理治疗，以放松和清除粘液

• Medicines to thin mucus and help breathing

• Antibiotics to treat infections

• Anti-inflammatory medicines

Lung transplant may be a choice for people with end-stage lung disease. 移植的类型通常是心肺移植或双肺移植. Not everyone is a candidate for a lung transplant. Discuss this option with your healthcare provider.

Managing digestive problems

This may include:

• A healthy diet that's high in calories

• Pancreatic enzymes to aid digestion

• Vitamin supplements

• Treatments for intestinal blockages

What are possible complications of cystic fibrosis?

CF has serious complications, including:

• 肺功能恶化，导致无法进行日常活动

• Lung infections

• Lung collapse (pneumothorax)

• Inflammation of the pancreas

• Cirrhosis (liver disease)

• Vitamin deficiencies

• Inability for a child to grow and develop (failure to thrive)

• Infertility

• Cystic fibrosis-related diabetes (CFRD)

• Gastroesophageal reflux disease (GERD). 患有这种疾病，胃内容物上升到食道，并可能造成严重损害.

Can cystic fibrosis be prevented?

Cystic fibrosis is caused by an inherited gene change (mutation). 如果有家族成员患有CF，建议进行CF基因检测. 对于伴侣是已知的CF携带者或患有CF的人，也建议这样做.

Testing for the CF gene can be done from a small blood sample. Or it can be done from a cheek swab. 这是用刷子在你的脸颊内侧摩擦，以获取细胞进行测试. Labs generally test for the most common CF gene mutations.

There are many people with CF whose mutations have not been identified. Experts have not discovered all the genetic errors that cause CF. 这意味着即使检测没有发现突变，一个人仍然可能是CF携带者. There are limits to CF testing.

两个携带CF基因的人有四分之一的机会生一个患有CF的孩子. 如果夫妻双方都有CF基因，并且都在考虑要一个孩子，他们有一些选择:

• Choose prenatal diagnosis. 这意味着婴儿可以在怀孕10至13周和15至20周期间检查CF.

• End a pregnancy.

• Prepare to have your child with CF. Talk to healthcare providers and parents of children with CF.

• Prepare to establish a treatment plan for your child with CF. Talk to healthcare providers about what your newborn's needs may be.

• Don't become pregnant.

• Explore surrogacy, adoption, or other ways to start a family.

Living with cystic fibrosis

如果你被诊断患有CF，这里有一些方法可以帮助你控制它:

• It's important to stay up-to-date with vaccines. They reduce the risk of infection. Ask your healthcare provider what vaccines you need. This may include the influenza, COVID-19, and pneumococcal vaccines.

• 你可能需要长期服用吸入抗生素来预防肺部感染.

• You may need medicines to help with digestion.

• Your healthcare provider may advise vitamin and mineral supplements.

• CF给家庭带来的身体、情感和经济压力是巨大的. 向您的医疗保健提供者寻求资源，以帮助支持您的家庭和控制疾病. CF患者的在线和面对面的家庭支持小组和同伴支持小组也很有帮助.

Key points about cystic fibrosis

• 囊性纤维化(CF)是一种遗传性威胁生命的疾病，影响许多器官. It causes changes in the electrolyte transport system.

• People with CF have problems in the glands that produce sweat and mucus.

• CF会导致粘稠的粘液阻塞某些器官，如肺、胰腺和肠道. This may cause malnutrition, poor growth, frequent respiratory infections, breathing problems, and chronic lung disease.

• All U.S. states require that newborns be tested for CF. This is how most cases are diagnosed.

• There is no cure for CF. Goals of treatment are to ease symptoms, prevent and treat complications, and slow the progress of the disease.

Next steps

Tips to help you get the most from a visit to your healthcare provider:

• Know the reason for your visit and what you want to happen.

• Before your visit, write down questions you want answered.

• 带一个人来帮你问问题，记住你的医生告诉你的.

• 在就诊时，写下新的诊断和任何新的药物、治疗方法或测试的名称. Also write down any new instructions your provider gives you.

• 了解为什么要开一种新药或治疗方法，以及它将如何帮助你. Also know what the side effects are.

• Ask if your condition can be treated in other ways.

• Know why a test or procedure is advised and what the results could mean.

• 知道如果你不吃药或不做检查或不做手术会发生什么.

• 如果你有后续预约，写下日期、时间和目的.

• Know how you can contact your provider if you have questions. Ask how to contact your healthcare team on weekends, holidays, and evenings if you have urgent concerns.