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What is cystic fibrosis A Mayo Clinic expert explains
Learn more from pulmonologist Sarah Chalmers, M.D. 请参见副本 供视频使用 What is cystic fibrosis A Mayo Clinic expert explains Hello. I'm Dr. Sarah Chalmers, a pulmonologist at Mayo Clinic. In this video, we'll cover the basics of cystic fibrosis. What is it? Who gets it? The symptoms, diagnosis and treatment. Whether you're looking for answers for yourself or someone you love, we're here to give you the best information available. Cystic fibrosis is a disorder that damages your lungs, digestive tract and other organs. It's an inherited disease caused by a defective gene that can be passed from generation to generation. Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices. These secreted fluids are normally thin and slippery. But in people with CF, they're thick and sticky. Instead of acting as lubricants, these secretions plug up the tubes, ducts and airways in your body. Although there is no cure for cystic fibrosis, people with this condition are generally able to live normal lives. There are many tools and techniques doctors use to help manage this complicated condition and with improvement in screening and treatments, life expectancy for those with cystic fibrosis is better than ever before. Simply put, cystic fibrosis is a gene defect. A defect to this gene changes how a salt moves in and out of cells, resulting in thick, sticky mucus in the respiratory, digestive and reproductive systems. It's an inherited condition. A child needs to inherit one copy of the mutated gene from each parent to develop cystic fibrosis. If they only inherit one copy from one parent, they won't develop it. However, they will be a carrier of that mutated gene, so they could pass it along to their own children in the future. Because CF is an inherited disorder, family history determines your risk. Although it can occur in all races, cystic fibrosis is most common in white people of North European ancestry. There are two kinds of symptoms associated with cystic fibrosis. The first are respiratory symptoms. Thick, sticky mucus can clog the tubes that carry air in and out of your lungs. This can trigger a persistent cough that produces thick mucus, wheezing, exercise intolerance, repeated lung infections, and inflamed nasal passages or a stuffy nose or recurrent sinusitis. The second type of symptoms are digestive. That same thick mucus that can clog your airways can also bog tubes that carry enzymes from your pancreas to your small intestine. This can result in foul-smelling or greasy stools, poor weight gain and growth, intestinal blockage, or chronic and severe constipation, which may include frequent straining while trying to pass stool. If you or your child show symptoms of cystic fibrosis or if someone in your family has CF, talk with your doctor about testing for the disease. Since this disease is an inherited condition, reviewing your family history is important. Genetic testing may be done to see if you carry the mutated gene that triggers cystic fibrosis. A sweat test may also be conducted. CF causes higher than normal levels of salt in your sweat. Doctors will examine the levels of salt in your sweat to confirm a diagnosis. Because this condition is passed from parent to children, newborn screening is routinely done in every state in the U.S. Early diagnosis of CF means that treatments can begin immediately. Unfortunately, there is no cure for cystic fibrosis, but proper treatment can ease your symptoms, reduce complications, and improve your quality of life. Doctors may decide that certain medications are necessary. These could include antibiotics to treat and prevent lung infections, anti-inflammatories to lessen the swelling in your airways, or mucus-thinning drugs to help expel mucus and improve lung function. Medications can also help improve digestive function. From stool softeners to enzymes, to acid-reducing drugs. Some medications can even target the gene defect that causes cystic fibrosis, aiding the faulty proteins to improve lung function and reduce salt in your sweat. Outside of medications, airway clearance techniques, also called chest physical therapy, can relieve mucus obstruction and help to reduce infection and inflammation in the airways. These techniques loosen the thick mucus in the lungs, making it easier to cough up. In some cases, doctors turn to surgery to help alleviate conditions that can arise from cystic fibrosis. For instance, nasal and sinus surgery to help you breathe, or bowel surgery to help improve digestive function. In life-threatening instances, lung transplant and liver transplant had been performed. Managing cystic fibrosis can be very complex. So consider getting treatment at a center with medical professionals trained in the disorder to evaluate and treat your condition. You can even ask your physician about clinical trials. New treatments, interventions and tests are constantly under development to help prevent, detect, and treat this disease. Learning you or someone you know has cystic fibrosis can be incredibly challenging. It's okay to feel depressed, anxious, angry, or afraid. In time, you'll find ways to cope, find support and talk to others who are going through it too. Look to your friends and family to help manage stress and reduce anxiety. Seek professional help. Remember, physical conditions come with an emotional and mental burden. And take the time to learn about cystic fibrosis. It's a complicated, severe disorder. So don't hesitate to talk to your medical team about your questions or concerns. With the knowledge and treatment available to doctors today, life with cystic fibrosis is better than ever before. If you'd like to learn even more about cystic fibrosis, watch our other related videos or visit mayoclinic.org. We wish you well. 囊性纤维化 打开弹出式对话框 关闭 囊性纤维化
囊性纤维化
患囊性纤维化时，气道中充满了浓稠的黏液，使呼吸困难。浓稠的黏液还最容易滋生细菌和真菌。 囊性纤维化（CF）是一种遗传性疾病，会对肺部、消化系统和身体其他器官造成严重损害。 囊性纤维化会影响产生黏液、汗液和消化液的细胞。这些分泌出来的液体通常又稀又滑。但 CF 患者的缺陷基因会导致分泌物变得黏稠。这些分泌物不充当润滑剂，而是堵塞管路、导管和通道，尤其是肺部和胰腺中的管路。 虽然囊性纤维化是进行性疾病，需要日常护理，但 CF 患者通常能够上学和工作。他们的生活质量往往比前几十年的 CF 患者要好。筛查和治疗方法的改善意味着 CF 患者现在可以活到 30 多岁或 40 多岁，有些人甚至可以活到 50 多岁。 产品与服务
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由于在美国会进行新生儿筛检，所以可以在婴儿出生后的第一个月内确诊囊性纤维化，而此时还不会出现症状。但对于在启动新生儿筛检之前已经出生的人而言，他们可能要等到囊性纤维化的体征和症状出现后方会被确诊。 囊性纤维化的体征和症状因疾病的严重程度而异。即使是同一个人，其症状也可能会随着时间的推移而出现恶化或改善。有些人可能到十几岁或成年后才会出现症状。成年后才被确诊的患者通常病情较轻，并且更有可能出现非典型症状，如反复发作的胰腺炎、不孕不育症和反复发作的感染性肺炎。 囊性纤维化患者汗液中的盐含量高于正常水平。父母亲吻孩子时，往往能尝到咸味。囊性纤维化的其他体征和症状大多会影响呼吸系统和消化系统。 呼吸道体征和症状
与囊性纤维化相关的黏稠液体会堵塞肺部输送空气的管道。可引发的体征和症状有： 持续咳嗽产生黏稠的黏液（痰） 哮鸣 运动不耐症 反复肺部感染 鼻道发炎或鼻塞 复发性鼻窦炎 消化系统的体征和症状
稠密的黏液也可能阻塞管道，导致无法将消化酶从胰腺运输到小肠中。没有这些消化酶，肠道就无法完全吸收您摄取的食物中的营养。结果通常是： 粪便恶臭、多脂 体重增长和身体生长缓慢 肠道阻塞，特别是在新生儿体内（胎粪性肠梗阻） 慢性或严重便秘，可能包括排便时反复用力，最终导致部分直肠脱肛（直肠脱垂） 何时就诊
如果您或您的孩子有囊性纤维化症状，或者您家族中有人患有 CF，请向医生咨询疾病的检测。咨询熟悉 CF 的医生。 囊性纤维化需要进行持续、定期复诊，至少每 3 个月一次。如果您出现新症状或症状恶化，如黏液比平时多或黏液颜色改变、精神不振、体重减轻或重度便秘，请立即联系医生。 如果您出现咳血、胸部疼痛或呼吸困难或重度胃疼和腹胀，请立即就医。 申请 Mayo Clinic 预约 病因
在囊性纤维化中，囊性纤维化跨膜传导调节因子 (CFTR) 基因的缺陷（突变）改变了一种控制盐进出细胞的蛋白质。这会导致呼吸系统、消化系统和生殖系统中出现黏稠的黏液，并增加汗液中的盐分。 基因可能出现多种不同的缺陷。基因突变的类型与该疾病的严重程度有关。 儿童从父母双方各遗传一个缺陷基因即会患病。如果儿童仅遗传了一个基因，则不会患囊性纤维化。但他们将成为携带者，并可能会将基因传给自己的孩子。 风险因素
由于囊性纤维化是一种遗传性疾病，会在家族中遗传，因此家族史是一个风险因素。尽管所有种族人群都有可能患 CF，但在北欧血统的白人中更常见。 并发症
囊性纤维化的并发症会影响呼吸系统、消化系统和生殖系统以及其他器官。 呼吸系统并发症
气道受损（支气管扩张）。囊性纤维化是支气管扩张的主要病因之一，支气管扩张是一种慢性肺疾病，伴有气道（支气管）的异常扩大和瘢痕形成。该疾病会导致空气更难以进出肺脏，也更难以清除支气管内黏液。 慢性感染。肺和鼻窦内黏稠的黏液最容易滋生细菌和真菌。囊性纤维化患者通常患有鼻窦感染、支气管炎或感染性肺炎。经常出现耐抗生素或难以治疗的细菌感染。 鼻内赘生物（鼻息肉）。鼻内膜由于发炎和肿胀，会长出柔软的肉芽样赘生物（息肉）。 咳嗽带血（咳血）。支气管扩张病灶见于肺内血管附近。气道损伤加上感染可能导致咳血。通常只有少量血，但也可能危及生命。 气胸。发生气胸时，空气泄漏至分隔肺脏与胸壁的间隔，导致部分或全部肺萎陷。更常见于囊性纤维化成人患者。气胸可能导致突发性胸部疼痛和呼吸急促。患者经常有胸腔内冒泡的感觉。 呼吸衰竭。一段时间后，囊性纤维化会严重损坏肺组织，阻止其正常工作。通常表现为肺功能逐渐恶化，最终可能危及生命。呼吸衰竭是最常见的死亡原因。 急性加重。囊性纤维化患者的呼吸症状可能逐渐加重，例如咳嗽伴更多黏痰以及气短。这称为急性加重，需要使用抗生素治疗。有时可以在家治疗，但有时可能需要住院治疗。加重期常出现体能下降和体重减轻现象。 消化系统并发症
营养缺乏。稠密的黏液可能阻塞用于将消化酶从胰腺运至肠道的管道。没有这些酶，您的身体无法吸收蛋白质、脂肪或脂溶性维生素，就不能获取足够的营养。这可能导致生长迟缓、体重减轻或胰腺发炎。 糖尿病。胰腺分泌胰岛素，而您的身体需要它来利用糖。囊性纤维化增加患糖尿病的风险。约 20% 的青少年和 40% 至 50% 的成人 CF 患者会患上糖尿病。 肝病。将胆汁从肝脏和胆囊运至小肠的管道可能阻塞和发炎。这可能导致肝脏疾病，例如黄疸、脂肪肝病和肝硬化，有时也会产生胆结石。 肠梗阻。所有年龄段的囊性纤维化患者均有可能发生肠道阻塞。也可能发生肠套叠，即一段肠管套入与其相连的肠腔内，就像可收缩望远镜一样。 远端肠梗阻综合征（DIOS）。DIOS 指小肠与大肠交接处出现部分或完全梗阻。DIOS 需要紧急治疗。 生殖系统并发症
不育症。出现囊性纤维化的男性几乎都无法生育，这是因为连接睾丸和前列腺的管道（输精管）被黏液阻塞或彻底消失。接受某些治疗和医疗操作之后，男性 CF 患者有时能够具有生育能力。 女性的生育能力下降。尽管与其他女性相比，出现囊性纤维化的女性的生育能力会下降，但她们能够受孕和成功怀孕。不过，怀孕可能导致 CF 的体征和症状加重，因此一定要与您的医生讨论可能出现的风险。 其他并发症
骨质疏松（骨质疏松症）。囊性纤维化患者发生危险性骨质疏松的风险更高。他们也可能出现关节疼痛、关节炎和肌痛。 电解质失衡与脱水。因为囊性纤维化患者的汗液盐分更多，所以他们血液中矿物质的平衡可能会很难实现。这就使得他们容易出现脱水，尤其在运动时或天气炎热时。体征和症状包括心跳加快、疲劳、虚弱和低血压。 心理健康问题。应对尚无治愈方法的慢性病可能会引起恐惧、抑郁和焦虑。 预防
如果您或您的伴侣有近亲患有囊性纤维化，则在要孩子之前双方都可以选择进行基因检测。该检测在实验室中对血液样本进行检测，可以帮助确定您生下 CF 患儿的风险。 如果您已经怀孕并且基因检测显示您的宝宝有患囊性纤维化的风险，则医生可能对发育中的胎儿进行进一步检查。 基因检测并不适合所有人。在决定接受检测之前，您应与遗传咨询师谈谈，了解检测结果可能带来哪些心理影响。 来自妙佑医疗国际员工 在 Mayo Clinic 治疗 申请 Mayo Clinic 预约 诊断与治疗 Nov. 23, 2021 打印 Share on: FacebookTwitterWeChat WeChat
CloseWeibo 显示参考文献 Symdeko (prescribing information). Vertex Pharmaceuticals Inc.; 2019. https://www.symdeko.com/how-symdeko-works. Accessed July 1, 2019. Kalydeco (prescribing information). Vertex Pharmaceuticals Inc.; 2019. https://www.kalydeco.com/. Accessed July 1, 2019. Orkambi (prescribing information). Vertex Pharmaceuticals Inc.; 2018. https://www.orkambi.com/. Accessed July 1, 2019. Chest physiotherapy compared to no chest physiotherapy for cystic fibrosis. Cochrane Database of Systematic Reviews. 2015; doi:10.1002/14651858.CD001401.pub3. Cystic fibrosis. National Heart, Lung, and Blood Institute. https://www.nhlbi.nih.gov/health-topics/cystic-fibrosis. Accessed July 1, 2019. Cystic fibrosis. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/cystic-fibrosis. Accessed July 1, 2019. AskMayoExpert. Cystic fibrosis. Mayo Clinic; 2017. Bronchiectasis. National Heart, Lung, and Blood Institute. https://www.nhlbi.nih.gov/health-topics/bronchiectasis. Accessed July 1, 2019. Rafeeq MM, et al. Cystic fibrosis: Current therapeutic targets and future approaches. Journal of Translational Medicine. 2017; doi:10.1186/s12967-017-1193-9. Cystic fibrosis. Merck Manual Professional Version. https://www.merckmanuals.com/professional/pediatrics/cystic-fibrosis-cf/cystic-fibrosis. Accessed July 1, 2019. Frequently asked questions: Pregnancy FAQ171: Cystic fibrosis: Prenatal screening and diagnosis. American College of Obstetricians and Gynecologists. https://www.acog.org/Patients/FAQs/Cystic-Fibrosis-Prenatal-Screening-and-Diagnosis?IsMobileSet=false. Accessed July 1, 2019. Simon RH. Cystic fibrosis: Treatment with CFTR modulators. https://www.uptodate.com/contents/search. Accessed July 1, 2019. Simon RH. Cystic fibrosis: Overview of treatment of lung disease. https://www.uptodate.com/contents/search. Accessed July 1, 2019. Solomon M, et al. Nutritional issues in cystic fibrosis. Clinics in Chest Medicine. 2016; doi:10.1016/j.ccm.2015.11.009. Savant AP, et al. Cystic fibrosis year in review 2018, part 1. Pediatric Pulmonology. 2019; doi:10.1002/ppul.24361. Savant AP, et al. Cystic fibrosis year in review 2018, part 2. Pediatric Pulmonology. 2019; doi:10.1002/ppul.24365. Brown A. Allscripts EPSi. Mayo Clinic. June 14, 2019. Drug trials snapshots: Trikafta. U.S. Food and Drug Administration. https://www.fda.gov/drugs/drug-approvals-and-databases/drug-trials-snapshots-trikafta. Accessed Dec. 21, 2019. Trikafta (prescribing information). Vertex Pharmaceuticals Inc.; 2019. https://www.trikaftahcp.com/. Accessed Nov. 5, 2019. Boesch RP (expert opinion). Mayo Clinic. Dec. 11, 2019. Kayani K, et al. Cystic fibrosis-related diabetes. Frontiers in Endocrinology. 2018; doi:10.3389/fendo.2018.00020. van de Peppel IP, et al. Diagnosis, follow-up and treatment of cystic fibrosis-related liver disease. Current Opinion in Pulmonary Medicine. 2017; doi:10.1097/MCP.0000000000000428. Care centers. Cystic Fibrosis Foundation. https://www.cff.org/Care/Care-Centers/. Accessed Nov. 20, 2019. Moran F, et al. Non-invasive ventilation for cystic fibrosis. Cochrane Database of Systematic Reviews. 2017; doi:10.1002/14651858.CD002769.pub5. 相关
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