囊性纤维化 - 诊断与治疗 - 妙佑医疗国际

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囊性纤维化

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诊断

Cystic fibrosis FAQs

Pulmonologist Sarah Chalmers, M.D., answers the most frequently asked questions about cystic fibrosis. 请参见副本供视频使用 Cystic fibrosis FAQs Hello. I'm Dr. Sarah Chalmers, a pulmonologist at Mayo Clinic. And I'm here to answer some of the important questions you may have about cystic fibrosis. Just because your baby's newborn screen came back positive does not mean that your baby has cystic fibrosis. Most babies who have a positive screening actually don't have CF. The newborn screen looks at a substance in the blood that is elevated in cystic fibrosis, but it can be elevated in other conditions as well, even premature birth. Some states also test for a gene mutation, but even if this comes back positive, it doesn't mean your baby has the disease. People with only one mutation are called carriers. It's very common in the United States and one in 20 people are CF gene mutation carriers. If your baby has a positive cystic fibrosis screen, they will need to see their doctor and have a sweat chloride test to see if they do have cystic fibrosis. CF gene mutations are actually passed from parent to children in a specific pattern called autosomal recessive. Each parent passes one CF gene to their child, and therefore each person has two CF genes. To get the disease, both genes have to have a mutation. People with one CF gene are called carriers. If a parent is a carrier, there's a 50 percent chance they'll pass on the gene with a mutation to their child. If both parents pass on a normal gene, or only one parent passes a gene with a mutation, the child will not have CF. If both parents pass on a gene with a mutation, then the baby will have two genes with the mutation and will likely get the disease. If both parents are CF mutation carriers, there's a 25 percent chance that each one of their babies will be born with cystic fibrosis. So both males and females can get cystic fibrosis. But females tend to have more symptoms, more lung infections, and they tend to start these symptoms of infections earlier in life as compared to males. No one knows for sure why this is so. Actually, nearly 10 percent of cases of CF are diagnosed in adulthood. You're born with cystic fibrosis, but there are several reasons why it may not be diagnosed during childhood. Prior to 2010, some states didn't even screen for cystic fibrosis. So if you were born before 2010, you may not have received a newborn screening test for cystic fibrosis as a baby. Some gene mutations cause very mild disease and symptoms may go unnoticed until adulthood. CF symptoms, how the disease affects the patient's organs and how it impacts their life is very different from one person to the next. Some people have very mild disease with only one organ affected and very few symptoms, while others have more severe disease with troublesome symptoms and multiple organs that are affected. Many factors including gene mutation type determine the impact on the patient. But your cystic fibrosis care team can work with you as an individual patient to create a personalized treatment plan that meets your individual needs. Fertility is affected in both men and women with cystic fibrosis. Women with CF have thicker cervical mucus and they may also have irregular menstrual cycles. So it may take longer for women with CF to become pregnant. But most can become pregnant, have a normal pregnancy and a normal delivery. Almost all men with CF have infertility. Men with CF make normal sperm, but the sperm canal is absent. Because they still make sperm, assisted reproductive technologies can be used to help male CF patients have biologic children. Whether your children get CF or not depends on the combination of genes passed on from you and your significant other and can range from zero chance if neither parent has a gene mutation to a near 100% chance if both parents have CF. Always be honest with your health care team. Let us know which medications you're taking and how often you're doing your treatments. Write down your questions before you come to your appointment so that we can make sure that we are meeting your needs. Thanks for your time. And we wish you well. 为诊断囊性纤维化，医生通常会对您进行体检、检查症状并进行多种检测。

新生儿筛检与诊断

现在美国每个州都会定期对新生儿进行囊性纤维化筛查。早期诊断意味着可以立即开始治疗。在一项筛查测试中，检查由胰腺释放的免疫反应性胰蛋白酶原（IRT）是否高于正常水平。由于早产或分娩压力大，新生儿的 IRT 水平可能很高。因此，囊性纤维化的确诊可能需要其他检查。为评估婴儿是否患有囊性纤维化，医生可能会在婴儿至少 2 周大时进行汗液试验。将一种能产生汗液的化学物质涂在小块皮肤上。随后收集汗液进行检测，看看含盐量是否比正常情况更高。在囊性纤维化基金会认可的护理中心进行的检测的结果更可靠。医生可能还会建议对导致囊性纤维化的基因的特定缺陷进行基因检测。除检查 IRT 水平外，也可以使用基因检测来确认诊断。

大龄儿童和成人的检查

对于出生时未做筛查的大龄儿童和成人，可能会建议进行囊性纤维化检查。如果您出现反复发作的胰腺发炎、鼻息肉、慢性鼻窦或肺部感染、支气管扩张或男性不育症，医生可能建议进行 CF 的遗传学和汗液检查。

Our caring team of Mayo Clinic experts can help you with your 囊性纤维化-related health concerns

治疗

囊性纤维化尚无治愈方法，但通过治疗可以减轻症状、减少并发症并改善生活质量。建议通过密切监测和积极的早期干预来减缓囊性纤维化进展，从而延长寿命。囊性纤维化的治疗非常复杂，因此在选择治疗中心时，应考虑选择在囊性纤维化诊疗方面接受过培训的医生或医学专家组成的多学科团队，由他们来负责您的治疗。治疗目标包括：预防和控制肺部感染清除和溶解肺内黏液治疗和预防肠道阻塞提供充足的营养

药物

治疗选择包括：靶向基因突变的药物，包括一种新型药物，它组合了三种药物来治疗引起囊性纤维化（CF）的最常见基因突变，被认为是治疗上的重大成果治疗和预防肺部感染的抗生素减轻肺部气道内肿胀的抗炎药物痰液稀释药物，例如高渗盐水，帮助您咳出痰液，从而改善肺部功能叫做支气管扩张剂的吸入药物通过放松支气管周围的肌肉帮助保持气道开放口服胰酶帮助消化道吸收营养大便软化剂来预防便秘或肠梗阻降酸药物促进胰酶效果治疗糖尿病或肝病的特定药物（视需要）

靶向基因的药物

对于存在某种基因突变的囊性纤维化患者，医生可能会建议使用囊性纤维化跨膜电导调节剂 (CFTR)。这类新型药物有助于改善有缺陷的 CFTR 蛋白质的功能。它们可改善肺功能和体重，并减少汗液中的含盐量。 FDA 已批准这些药物用于治疗存在一个或多个 CFTR 基因突变的 CF 患者：含有 elexacaftor、依伐卡托和替扎卡托的最新组合药物（Trikafta）获批准用于治疗 12 岁及以上的患者，被许多专家认为是重大突破。含有替扎卡托和依伐卡托的复方药物（Symdeko）获批准用于治疗 6 岁及以上的患者。含有鲁马卡托和依伐卡托的复方药物（Orkambi）获批准用于治疗 2 岁及以上患者。依伐卡托 (Kalydeco) 已获批用于治疗 6 月龄及以上的患者。

针对囊性纤维化的里程碑式治疗方法

Tim Myer 生来患有囊性纤维化 (CF)。当他在等待肺移植手术时，美国食品和药品管理局批准的一种新药改变了一切。Myer 和他在妙佑医疗国际的肺科医生 Mark Wylam 共同分享这个值得纪念的故事。妙佑医疗国际问答播客在开具这些药物之前，医生可能会进行肝功能检测和眼科检查。在服用这些药物的同时，还需要定期进行检测，以确定是否有肝功能异常和白内障等副作用。向医生和药剂师咨询可能的副作用和注意事项。保持定期复诊，这样医生就可以在您服用这些药物期间对您进行监测。告知医生出现的所有副作用。

气道廓清技术

背心疗法妙佑医疗国际的呼吸治疗师采用定制疗法，与一位囊性纤维化成人患者讨论充气背心疗法。气道廓清技术，也称为胸部物理治疗（CPT），可以减轻黏液阻塞，并有助于降低气道中的感染和炎症。这些技术可缓解肺部黏稠的黏液，更容易咳嗽。气道廓清技术通常需要每天进行多次。可以使用不同类型的 CPT 缓解并清除黏液，可能推荐采用多种技术联合的方法。常见手段是空心掌叩击胸部的正面和背面。一些呼吸和咳嗽技术也可能有助于缓解黏液。机械装置能够帮助缓解肺黏液。设备包括一个可以吹气的管子和将空气脉冲至肺部的机器（背心式振动排痰机）。剧烈运动也可能会用于清除黏液。医生将指导您接受最适合您的胸部物理治疗的类型与频率。

肺康复治疗

医生可能会提出一项长期计划，以改善您的肺功能和总体健康状况。肺康复治疗通常在门诊部完成，可能包括：体育锻炼，以改善病情呼吸技巧，以帮助稀释黏液和改善呼吸营养咨询咨询和支持病情相关教育

外科手术及其他医疗操作

针对由囊性纤维化引起的某些疾病的治疗方案包括：鼻腔手术和鼻窦手术。医生可能建议进行手术，以切除阻塞呼吸的鼻息肉。对于复发性或慢性鼻窦炎，可以通过鼻窦手术来治疗。氧疗。如果您的血氧水平下降，医生可能建议您吸入纯氧，以防止肺部出现高血压（肺高压）。无创通气。无创通气通常在睡觉时使用，通过鼻罩或口罩在患者呼吸时提供气道和肺部正压。这种方法通常与氧疗结合使用。无创通气可以增加肺部的空气交换并减少呼吸功。这种疗法也有助于清除气道分泌物。进食管。囊性纤维化会阻碍消化，因此您不能很好地吸收食物中的营养。医生可能会建议使用进食管来额外提供营养。进食管可以是经鼻部插入并引至胃部的临时管，也可以通过手术植入腹部。进食管可在白天或晚上用于提供额外的卡路里，并且不会妨碍口腔进食。肠道手术。如果肠道出现阻塞，则可能需要手术清除。肠套叠意味着某段肠管套入相连肠道内，可能也需要通过手术修复。肺移植。如果您有严重的呼吸问题，出现危及生命的肺部并发症或对治疗肺部感染的抗生素耐药性增加时，则可以选择肺移植。由于在导致大气道永久性扩张（支气管扩张）的疾病（如囊性纤维化）中，细菌会在气道中形成菌膜，因此需要换掉两个肺。囊性纤维化不会再次发生在移植的肺中。但是，与囊性纤维化有关的其他并发症，例如鼻窦感染、糖尿病、胰腺疾病和骨质疏松症，在肺移植后仍可能发生。肝移植。对于严重的与囊性纤维化相关的肝病，例如肝硬化，可以选择肝移植。在某些患者人群中，肝移植可能会与肺或胰腺移植一起进行。

临床试验

探索 Mayo Clinic 的研究测试新的治疗、干预与检查方法，旨在预防、检测、治疗或控制这种疾病。

生活方式与家庭疗法

有几种方法可以控制症状并尽量减少并发症。

注意营养和水分摄入

囊性纤维化会导致营养不良，因为消化酶不能到达小肠，从而阻碍食物的吸收。CF 患者每日所需卡路里量可能远高于健康人。健康的饮食对生长发育和维护肺功能很重要。多喝水也很重要，这有助于稀释您肺部的黏液。您可与营养师一起制定营养计划。医生可能会建议：吃正餐和零食时同时服用胰酶胶囊抑制胃酸分泌的药物补充高热量的营养特殊的脂溶性维生素多吃纤维以防止肠阻塞补充盐分，尤其是在炎热的天气或运动前摄入充足的水分，尤其是在炎热的天气

按时接种疫苗

除接受其他常见的儿童期疫苗外，囊性纤维化患者还应接种年度流感疫苗和医生建议的任何其他疫苗，例如预防感染性肺炎的疫苗。CF 不会影响免疫系统，但患有 CF 的儿童在生病时更易出现并发症。

运动

定期运动有助于松解气道内的黏液并增强心脏功能。由于囊性纤维化患者现在活得更久，维持心血管健康对于健康生活非常重要。任何能让您运动起来的事情（包括步行和骑自行车）都会有帮助。

消除烟雾

不要抽烟，也不要让别人在您或您的孩子周围抽烟。二手烟对每个人都有害，尤其是对囊性纤维化患者，就像空气污染一样。

鼓励洗手

教导家人在吃饭前、如厕后、下班回家或放学回家时、与患病者共处后，应彻底洗手。洗手是预防感染的最佳方法。

前去就诊

您将得到医生和其他专业医护人员的持续护理。确保参加您的定期随访。按处方服药并遵医嘱进行治疗。向医生咨询如何处理症状和严重并发症的警告信号。

妥善处理与支持

如果您或您的亲友患有囊性纤维化，您可能会出现强烈的情绪，如抑郁、焦虑、愤怒或恐惧。这些问题在青少年中尤为常见。以下建议可能会有所帮助。寻求支持。开诚布公地谈论您的感受会有所帮助。与其他存在同样问题的人交流也会有所裨益。这可能意味着，自己加入一个互助组，或者为子女患有囊性纤维化的父母找到一个互助组。年纪稍长的囊性纤维化患儿可能希望加入囊性纤维化小组，与其他患有相同疾病的人见面并交谈。寻求专业帮助。如果您或您的孩子感到抑郁或焦虑，咨询心理健康专家可能有所帮助。专家可以与您探讨感受和应对策略，也可以提供药物或其他治疗建议。与家人朋友共度时光。他们的支持可以帮助您管理压力，减少焦虑。必要时向朋友或家人寻求帮助。花点时间去了解囊性纤维化。如果您的孩子患有囊性纤维化，鼓励他们去了解囊性纤维化。获悉随着孩子长大成人，如何管理囊性纤维化患者的医疗护理。如果存在护理疑问，请咨询医生。

准备您的预约

如果您或您的孩子有囊性纤维化的常见体征或症状，请预约医生就诊。初步评估后，您可能会被转诊给在囊性纤维化评估和治疗方面训练有素的医生。以下信息可以帮助您做好就诊准备，并了解医生可能做什么。

您可以做什么

您应该准备以下问题的答案：您或您的孩子有什么症状？症状是从什么时候开始的？有什么因素能使症状好转或恶化吗？您家里有人曾出现过囊性纤维化吗？发育是否正常，体重是否稳定？

医生可能做些什么

获得关于症状以及您家族病史的详细信息后，医生可能会安排检测以帮助诊断和规划治疗。来自妙佑医疗国际员工在 Mayo Clinic 治疗申请 Mayo Clinic 预约症状与病因医生与科室 Nov. 23, 2021 打印显示参考文献 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.