什么是囊性纤维化?

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 with the glands that make sweat and mucus. CF使粘液变厚. 症状始于儿童时期. On average, people with CF live into their mid to late 30s. But new treatments are increasing life expectancy.

CF影响几个器官系统，包括:

• 呼吸系统

• 消化系统

• 生殖系统

Some people carry the CF gene without being affected by the disease. 他们通常不知道自己是携带者.

CF如何影响呼吸系统?

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 rate of infection 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. 鼻息肉 are small bumps of tissue from the lining of the nose. 它们会阻塞和刺激鼻腔. People with CF also have higher rates of sinus infections.

How does cystic fibrosis affect the digestive system?

CF主要影响胰腺. 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. 这些包括:

• 大而油腻的大便

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

• 青春期延迟

• 大便里有脂肪

• 胃疼

• 腹泻带血

肝脏也可能受到影响. A small number of people may develop liver disease. 肝病的症状包括:

• 肝脏肿大

• 腹部肿胀

• 皮肤呈黄色(黄疸)

• 吐血

CF如何影响生殖系统?

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. There are some newer methods that allow men with CF to have children. 与您的医疗保健提供者讨论这些问题. 患有CF的女性宫颈粘液增加，这可能导致生育能力下降. 他们也可能有不规律的排卵. But many women with CF are able to have children.

什么导致囊性纤维化?

CF是一种遗传性疾病. 这意味着CF是遗传的.

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. Electrolytes are substances in blood that are vital to cell function. 这些运输系统变化的主要结果体现在身体分泌物中, 比如粘液和汗水.

CFTR基因庞大而复杂. 该基因中有许多不同的突变与CF有关.

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.

谁有患囊性纤维化的风险?

囊性纤维化是遗传性的. 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.

囊性纤维化的症状是什么?

每个人的症状可能不同. 症状的严重程度也各不相同. 症状可能包括:

• 堵塞某些器官如肺、胰腺和肠的粘稠粘液. 这可能会导致营养不良, 可怜的增长, 频繁的呼吸道感染, 呼吸困难, 以及持续的(慢性)肺病.

Many other health problems can point to cystic fibrosis, as well. 这些包括:

• 鼻窦炎

• 鼻息肉

• 棍棒般的手指和脚趾. 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

• 咳血

• 由于肺部压力增大而引起的右侧心脏增大(肺心病)

• 腹部疼痛

• 肠内气体过多

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

• 肝脏疾病

• 糖尿病

• 胰腺炎胰腺的炎症(胰腺炎)，引起腹部剧烈疼痛

• 胆结石

• Congenital bilateral absence of the vas deferens (CBAVD) in males. 这会导致精子管道堵塞.

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:

• 腹泻不会消失

• 恶臭的粪便

• 油腻的凳子

• 频繁的喘息

• 经常性肺炎或其他肺部感染

• 持续的咳嗽

• 吃起来像盐的皮肤

• 尽管胃口好，但增长缓慢

The symptoms of CF may seem like other conditions or health problems. 请向医疗保健提供者咨询诊断.

如何诊断囊性纤维化?

所有的你.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. 这些测试可能包括:

• 胸部x光片，超声波和CT扫描

• 血液测试

• 肺功能检查

• 痰液培养

• 凳子的测试

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

如何治疗囊性纤维化?

目前还没有治愈CF的方法. 科学家们正在研究基因疗法. 一些疾病晚期的患者可能会考虑进行手术，如肺和胰腺移植.

治疗的目的是缓解症状, 预防和治疗并发症, 减缓疾病的发展.

Treatment generally focuses on the following 2 areas.

处理肺部问题

这可能包括:

• 物理治疗

• 气道清除治疗，包括胸部物理治疗，以放松和清除粘液

• 药物可以稀释黏液，帮助呼吸

• 治疗感染的抗生素

• 抗炎药物

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.

处理消化问题

这可能包括:

• 高热量的健康饮食

• 帮助消化的胰酶

• 维生素补充剂

• 肠阻塞的治疗

What are possible complications of cystic fibrosis?

CF有严重的并发症，包括:

• 肺功能恶化，导致无法进行日常活动

• 肺部感染

• 肺萎陷(气胸)

• 胰脏发炎

• 肝硬化(肝脏疾病)

• 维生素缺乏

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

• 不孕不育

• 囊性纤维化相关性糖尿病(CFRD)

• 胃食管反流病(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.

囊性纤维化可以预防吗?

囊性纤维化 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. 也可以通过拭子检测. 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. CF测试是有限制的.

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:

• 选择产前诊断. 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.

• 终止妊娠.

• 准备好让你的孩子患有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.

• 不要怀孕.

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

囊性纤维化患者的生活

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. 它们降低了感染的风险. 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.

囊性纤维化要点

• 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.

• CF患者分泌汗液和粘液的腺体有问题.

• CF会导致粘稠的粘液阻塞某些器官，如肺、胰腺和肠道. 这可能会导致营养不良, 可怜的增长, 频繁的呼吸道感染, 呼吸困难, 慢性肺病.

• 所有的你.S. states require that newborns be tested for CF. 这是大多数病例的诊断方法.

• CF无法治愈. 治疗的目的是缓解症状, 预防和治疗并发症, 减缓疾病的发展.

下一个步骤

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. 还要知道副作用是什么.

• 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, 假期, 如果你有紧急情况，晚上也可以.