Cystic fibrosis is a multi-organ disease that affects the quality of body secretions and fluids. The condition is especially problematic in the respiratory tract. Cystic fibrosis causes thick mucus to accumulate in the airways. People who have the condition are also more prone to infections.
The main goal of treatment regimens has been to keep the respiratory tract clear from secretions and prevent infections. The standard of care for treating cystic fibrosis respiratory disease calls for medications that keep the air passages open, make the mucus in the lungs more fluid, facilitate mucus clearance, and attack the infections present in the airways. However, for the most part, these treatments mainly target the symptoms and slow down the progression of the disease.
A second common problem for people with cystic fibrosis relates to their digestive tract. The condition causes blockages in the pancreas. In turn, this can lead to maldigestion, which means that the nutrients in food aren’t completely broken down and absorbed. It can also cause abdominal pains, difficulty gaining weight, and potential bowel obstructions. Pancreatic enzyme replacement therapy (PERT) treats most of these problems by improving the body’s ability to digest food. PERT also promotes good growth.
Recently developed treatments, called modulators as a class, restore the ability of cells to make the cystic fibrosis protein work to maintain normal levels of fluid in body secretions. This prevents the accumulation of mucus.
These medications are a significant advance in the treatment of cystic fibrosis. Unlike previous drugs, these medications do more than simply treat the symptoms of the condition. Modulators actually target the underlying disease mechanism of cystic fibrosis.
与以前的治疗相比，一个重要的优势是，这些药物是通过口腔和有效工作的。这意味着身体的其他系统，不仅是呼吸道和消化道，还可以从其作用中受益。
Although these medications are effective, they have limits. Modulators only work for specific defects in the cystic fibrosis protein. That means they work well for some people who have cystic fibrosis, but not others.
囊性纤维化是一种遗传遗传条件。要使个体受到影响，必须遗传两个缺陷或“突变”的囊性纤维化基因，一个来自每个父母。囊性纤维化基因为一种称为囊性纤维化跨膜电导调节剂（CFTR）的蛋白质提供了指示。CFTR蛋白对于许多器官的细胞控制覆盖其表面的盐和液体的量非常重要。
In the respiratory tract, CFTR plays a key role. It helps create an effective defensive barrier in the lungs by making the surface moist and covered with thin mucus that’s easy to clear. But for those who have cystic fibrosis, the defense barrier in their respiratory tract is ineffective to protect them from infection, and their airway passages get clogged with thick mucus.
There is currently no cure for cystic fibrosis. However, new treatments aimed at the different defects that the gene can carry are proving to be beneficial.
People with cystic fibrosis take most respiratory treatments in an inhalation form. These medications can induce coughing, shortness of breath, chest discomfort, unpleasant taste, and other potential side effects.
囊性纤维化的消化治疗可能会导致腹部疼痛和不适以及便秘。
囊性纤维化调节药物会影响肝功能。他们还可以与其他药物互动。因此，服用调节剂的人需要监控其肝功能。
通常对患有囊性纤维化的任何年龄段的人进行密切监测，以检测健康状况的早期变化。这使他们的护理团队能够在发生重大并发症之前进行干预。
患有囊性纤维化的人应该学习如何注意并发症的迹象或症状。这样，他们可以立即与他们的护理团队讨论对治疗方案的潜在变化。此外，如果治疗没有提供预期的好处，或者是造成副作用或其他并发症的情况，那么可能是时候考虑进行更改了。
考虑新疗法可用时也很重要。囊性纤维化的人可能有资格接受新的调节剂治疗，即使过去的药物是一种选择。应始终与医疗团队详细讨论这一点。当某人切换其囊性纤维化药物时，需要密切监视健康状况的任何变化。
Today, most new cases of cystic fibrosis are identified early thanks to newborn screening. The needs of people who have cystic fibrosis change as they move from the newborn period to infancy, to childhood, to puberty, and ultimately to adulthood. Although the basic tenants of cystic fibrosis care are the same, there are some variations depending on an individual’s age.
In addition, cystic fibrosis is a disease that progresses with age. The disease progresses at a different pace from person to person. This means that treatment requirements change as people get older.
治疗方案b改变,需要定制ased on the degree of disease progression and severity in an individual person. There is no fixed regimen that applies across the board. For some people with more advanced respiratory disease, the treatment regimen will be more intensive than it would be for people with less severe forms of the disease.
更密集的治疗方案可能包括更多的药物和治疗方法，并具有更频繁的给药。此外，患有更晚期疾病的人往往在其他疾病（例如糖尿病）上遇到困难。这可以使他们的治疗方案更加复杂和具有挑战性。
In general, people with cystic fibrosis are asked to follow a high-calorie, high-protein diet. That’s because cystic fibrosis can cause malabsorption of nutrients and increased metabolic demands. There is a well-recognized connection between nutritional status and respiratory disease progression. That’s why people with cystic fibrosis are monitored closely to ensure they are eating enough and growing.
对于患有囊性纤维化的人来说，没有明显的对与错食物。显然，遵循健康的饮食 - 富含卡路里，蛋白质，维生素和微量营养素 - 对身体健康很重要。囊性纤维化的人通常需要根据个人需求和问题来添加特定的营养准备和补充剂。这就是为什么囊性纤维化治疗的组成部分是营养学家开发的营养方案，并根据个人和家庭的需求和偏好量身定制。
囊性纤维化患者的预期寿命the United States is now reaching 50 years. Great advances in life expectancy have happened because of decades of research and hard work at all levels.
We now understand that consistently applying best practices leads to substantial benefits for people with cystic fibrosis. It’s also very important for people to work in close partnership with their care team, and to follow their treatment regimen consistently. This maximizes the potential for benefit. It also helps the individual to have a better understanding of the effect of each intervention.
从个人的角度来看，囊性纤维化需要被视为生活之旅。它需要所有受影响者周围所有人的支持和理解。这首先是护理人员对疾病及其影响得到充分教育。重要的是要识别早期的并发症和其他问题的迹象。
护理人员通常会发现，适应需要进行的日常变化，以便个人遵循其治疗方案。成功的关键是找到适当的平衡，以便治疗方案成为日常工作的一部分。这允许一致性。
A second important aspect is for caregivers to always be prepared for the changes that could come along with acute illness or disease progression. These issues lead to an increase in treatment demands. This is a difficult time and probably one when an individual with cystic fibrosis needs the most support and understanding.
Dr. Carlos Milla is a pediatric pulmonologist with international recognition as an expert in respiratory diseases in children, and in particular cystic fibrosis. Dr. Milla is a member of the faculty at Stanford University School of Medicine, where he was appointed professor of pediatrics. He was also named a Crandall endowed scholar in pediatric pulmonary medicine and serves as the current associate director for translational research at the Center for Excellence in Pulmonary Biology (CEPB) at Stanford University.