囊性纤维化治疗的进展:CFTR调节器
Maria Dolores Pastor-Vivero1, Jordi Costa I Colomer2, Carlos Martín de Vicente3
1Sección de Neumología Pediátrica, Unidad Multidisciplinar de Fibrosis Quística, Hospital Universitario Cruces. Barakaldo. Bizkaia. Spain; Instituto de Investigación Sanitaria Biobizkaia. Barakaldo. Bizkaia. Spain.
Anales de pediatria
|May 15, 2025
概括
囊性纤维化转膜导电调节器 (CFTRm) 疗法,特别是三重疗法,显著改善了符合条件的患者的治疗结果. 然而,有些人仍然无法接受这些先进的治疗方法.
科学领域:
- 医学遗传学 医学遗传学
- 肺部病理学 肺部病理学
- 药理学 药理学是指药理学的学科.
背景情况:
- 囊性纤维化 (CF) 是一种严重的遗传性疾病,主要影响呼吸系统.
- 目前的治疗方法旨在改善囊性纤维化转膜导电性调节器 (CFTR) 蛋白的功能.
研究的目的:
- 审查CFTR调节器治疗囊性纤维化症的进展.
- 评估这些疗法对CF管理和患者治疗结果的各个方面的影响.
主要方法:
- 对CFTR调节器疗法的现有文献的审查.
- 对不同调节器组合的临床试验数据和现实世界的证据进行分析.
主要成果:
- 伊瓦卡夫托尔,卢马卡夫托尔-伊瓦卡夫托尔,特萨卡夫托尔-伊瓦卡夫托尔和埃莱克萨卡夫托尔-特萨卡夫托尔-伊瓦卡夫托尔已经显示出不同程度的疗效.
- 三重疗法在呼吸,胃肠道,营养结果,生活质量和预期寿命方面显著改善.
- CFTR调节器在肝脏和胰腺参与方面表现有前途,但需要进一步的研究.
- 营养状况的趋势发生了转变,营养不良减少,肥胖风险增加.
结论:
- CFTR调节剂,特别是三重疗法,已经彻底改变了符合条件的患者的CF治疗.
- 目前正在进行的研究正在探索对不太常见的变体和潜在的产前应用的治疗方法.
- 一部分患者仍然无法接受当前调节器疗法,这凸显了继续研究和开发的必要性.
相关概念视频
Cystic Fibrosis: Management
117
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
Sinus disease and chronic...
117
Cystic Fibrosis: Pathogenesis
157
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
157
Drugs for Treatment of Constipation-Predominant IBS
117
Pharmacological therapies for IBS-C are designed to alleviate abdominal discomfort and enhance bowel function. In patients with IBS-C, fiber supplements may help soften stools and decrease straining, but may also lead to increased gas production and bloating. Osmotic laxatives like milk of magnesia are frequently used to soften stools and increase stool frequency in IBS-C patients. In addition, two drugs approved for use in severe IBS-C adult cases are linaclotide (Linzess) and lubiprostone...
117
Antiasthma Drugs: Leukotriene Modifiers
180
Leukotriene modifiers, or cysteinyl leukotriene receptor antagonists, are medications used to manage chronic asthma. These agents target specific inflammatory mediators produced during arachidonic acid metabolism, an essential process in generating inflammation in the body.
Leukotriene modifiers work through two distinct mechanisms:
Leukotriene modifiers work through two distinct mechanisms:
180
COPD: Management Using Bronchodilators and Corticosteroids
148
Chronic obstructive pulmonary isease (COPD) involves a group of progressive lung disorders characterized by persistent airflow limitation and chronic respiratory symptoms. Asthma-COPD Overlap Syndrome (ACOS), encompassing features of both asthma and Chronic obstructive pulmonary disease (COPD), is a group of progressive lung disorders that includes chronic bronchitis, emphysema, and refractory (non-reversible) asthma. ACOS leads to complex clinical presentations that combine the inflammatory...
148
Treatment for Pulmonary Arterial Hypertension: Receptor Tyrosine Kinase Inhibitors and Calcium Channel Blockers
110
Receptor tyrosine kinase inhibitors (TKIs) and calcium channel blockers (CCBs) are two critical categories of drugs employed in the treatment of pulmonary artery hypertension (PAH). PAH is a disease that causes high blood pressure in the pulmonary arteries, resulting in chest pain, fatigue, and shortness of breath.
TKIs, such as imatinib (Gleevec), are particularly effective in tackling the growth and mitogenic factors that become upregulated in PAH patients. These factors contribute to the...
TKIs, such as imatinib (Gleevec), are particularly effective in tackling the growth and mitogenic factors that become upregulated in PAH patients. These factors contribute to the...
110


