CFRI
The Cystic Fibrosis Research Institute (CFR) was formed in 1975 by a group of parents whose children with CF were not expected to survive their teen years. Our mission is to be a global resource for the cystic fibrosis community while pursuing a cure through research, education, advocacy, and support., while our vision is find a cure for cystic fibrosis while enhancing quality of life for the CF community.
About Cystic Fibrosis
- Cystic fibrosisis a genetic disease that interferes with the proper movement of sodium and water across cell membranes, leading to dehydration and thick mucus that plugs the airways. This mucus creates an optimal environment for opportunistic pathogens to flourish. Frequent respiratory infections are common; many individuals are colonized with resistant pathogens.
- Symptoms include frequent respiratory infections, abnormally thick mucus, and malnutrition because of the effects of thick mucus in the gastrointestinal system. While most known as a lung disease, cystic fibrosis impacts every organ system in the body, leading to secondary complications including diabetes, osteoporosis, liver disease, and infertility in men.
- Treatment is focused on medications that correct the cellular function, nebulized therapies to assist with mucociliary clearance, inhaled, oral and IV antibiotics to treat infections, and pancreatic enzyme replacement.
Watch a 2.5 minute film on CF and its impact on our diverse community.
Strategies to Treat Opportunistic Infections
CF and Phage Therapy for Antimicrobial Resistant Infections
As individuals with cystic fibrosis are increasingly burdened by opportunistic pathogens that are resistant to antimicrobial therapies, the need for new strategies is paramount. In this presentation, Paul Bollyky, MD, PhD, discusses advances in phage therapy, including a novel approach to design effective, broad-spectrum phage cocktails that entails combining phages with different complimentary receptors.
CF Airway Infections: To Treat or Not To Treat? Why and How?
Dao Nguyen, MD.CM, FRCP(C), reviews the recent advances in our understanding, diagnosis and treatment of CF airway infections, as well as the challenges and remaining questions. Her presentation gives an overview on different microbes, particularly bacteria, ways to diagnose infection, and how to determine whether to treat and what kinds of treatments there are. Dr. Nguyen is Associate Professor of Medicine at McGill, Clinician Scientist at the Research Institute of the McGill University Health Centre, Physician in the Division of Respirology at the McGill University Health Centre and Founding Director of the McGill Antimicrobial Resistance Centre,
Fungal Infections in CF
In addition to bacterial infections, fungal infection in cystic fibrosis is a recognized challenge. In his presentation, Rick Moss, MD, outlines the current understanding of the prevalence and diversity of fungal presence in the CF respiratory tract, and risk factors for acquiring fungi. He addresses advances in the diagnostic approaches, the challenges of classifying clinical presentations and phenotypes of CF patients harboring fungi, as well as current treatment approaches.
Challenging Infections in PCD
Why do challenging lung infections occur in PCD?
Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder that affects the cilia, which are tiny, hair-like structures that line the respiratory tract and other parts of the body. These cilia play a crucial role in moving mucus and other substances out of the airways. When ciliary function is impaired due to PCD, it can lead to chronic respiratory issues and an increased susceptibility to lung infections.
What factors contribute to challenging lung infections in PCD?
Impaired Mucus Clearance: The ciliary dysfunction in PCD results in ineffective clearance of mucus from the airways. This creates an environment where bacteria and other pathogens can thrive, leading to recurrent respiratory infections.
Chronic Inflammation: The continuous presence of mucus and the inability to clear it properly can cause chronic inflammation in the airways. This inflammation further impairs lung function and increases the likelihood of infections.
Structural Abnormalities: PCD can also lead to structural abnormalities in the airways, such as bronchiectasis. These changes make it difficult for the lungs to effectively clear infections, as pockets of mucus may become trapped in dilated airways.
Laterality Defects: About half of people with PCD will have a ‘laterality defect,’ meaning their organs are not in the typical arrangement or did not develop correctly. When splenic function is affected by laterality defects (a rare occurrence) the ability to fight infection may be impaired.
Delayed Diagnosis: PCD is often underdiagnosed or misdiagnosed, leading to delayed initiation of appropriate treatments. This delay can contribute to the development of more severe lung infections.
Frequent Antibiotic Use: Due to recurrent infections, individuals with PCD may need frequent courses of antibiotics. Prolonged or repeated use of antibiotics can lead to the development of antibiotic-resistant strains of bacteria, making infections more challenging to treat.
How are challenging lung infections managed in PCD?
Management of challenging lung infections in PCD involves a multidisciplinary approach, including:
Antibiotics: Depending on the type of infection, antibiotics may be prescribed to treat bacterial infections. It's important to choose antibiotics carefully to avoid the development of resistance.
Airway Clearance Techniques: Physiotherapy and airway clearance techniques are crucial in helping individuals with PCD clear mucus from their airways. These may include chest physiotherapy, postural drainage, and the use of positive expiratory pressure devices, etc.
Inhaled Medications: Bronchodilators and inhaled corticosteroids may be used to manage airway inflammation and improve lung function.
Preventive Measures: Vaccinations, including influenza and pneumonia vaccines, are important to help prevent respiratory infections. Regular monitoring by a healthcare team familiar with PCD is essential for adjusting treatment plans based on the individual's specific needs. Early and proactive management can help minimize the impact of challenging lung infections in individuals with PCD.
| Cystic Fibrosis | Primary Ciliary Dyskinesia |
|---|---|
| CF is an autosomal recessive gnetic disease affecting the resppiratory, digestive, endocrine, and reprofuctive systems. | Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder that affects the cilia, which are tiny, hair-like structures that line the respiratory tract and other parts of the body. These cilia play a crucial role in moving mucus and other substances out of the airways. When ciliary function is impaired due to PCD, it can lead to chronic respiratory issues and an increased susceptibility to lung infections. |
| CF is a rare disease with slightly 31,000 people in the US diagnosed. Diagnosis is made via newborn screening, sweat trest, and genetic testing. | PCD also leads to laterality defects of the visceral organs in about half of patients. When these defects impact splenic function, ability to fight infection may be additionally impaired. |
| CF symptoms can vary widly and include salty tasting skin, presistent cough, frequest lung and sinus infections, difficult gaining weight, gastrointestinal complications, shortness of breath, meconium ileus, and male infertility. | The chronic vicious cycle of impaired mucociliary clearance, inflammation, and infection eventually causes permanent lung damage known as bronchiectasis. Bronchiectasis accelerates the vicious cycle, leading to progressive scarring of the lungs and impaired lung function. |
ATS Patient Information Series
The ATS Patient Information Series is a public service of the American Thoracic Society and its journal the AJRCCM (www.atsjournals.org). The information appearing in this series is for educational purposes only and should not be used as a substitute for the medical advice of one’s personal health care provider.
