Cystic fibrosis is a genetic disorder that affects the lungs and pancreas, causing thick mucus to build up. It is caused by a mutation on chromosome 7 and is inherited in an autosomal recessive pattern. Symptoms include coughing, lung infections, and digestive issues. Treatment focuses on airway clearance and managing infections through antibiotics, inhaled medications, and other therapies.
Cystic fibrosis is a genetic disorder that affects the lungs and pancreas, causing thick mucus to build up. It is caused by a mutation on chromosome 7 and is inherited in an autosomal recessive pattern. Symptoms include coughing, lung infections, and digestive issues. Treatment focuses on airway clearance and managing infections through antibiotics, inhaled medications, and other therapies.
Cystic fibrosis is a genetic disorder that affects the lungs and pancreas, causing thick mucus to build up. It is caused by a mutation on chromosome 7 and is inherited in an autosomal recessive pattern. Symptoms include coughing, lung infections, and digestive issues. Treatment focuses on airway clearance and managing infections through antibiotics, inhaled medications, and other therapies.
Cystic fibrosis is a genetic disorder that affects the lungs and pancreas, causing thick mucus to build up. It is caused by a mutation on chromosome 7 and is inherited in an autosomal recessive pattern. Symptoms include coughing, lung infections, and digestive issues. Treatment focuses on airway clearance and managing infections through antibiotics, inhaled medications, and other therapies.
Cystic fibrosis (CF) is a genetic disorder that primarily affects the lungs and the pancreas. It affects how your body makes mucus, which causes thick, sticky mucus to build up in the lungs and digestive tract, leading to breathing difficulties, frequent lung infections, and digestive problems. This happens because of a problem with a specific part of chromosome 7, which makes it hard for cells to move small molecules across their membranes. As a result, cells in the airways and pancreas become dehydrated. CF is passed down through families in a way that requires both parents to carry the gene. It's more common in White children, affecting about 1 in every 2,500 births. Doctors can test for CF during pregnancy using procedures like chorionic villus sampling or amniocentesis, or they can screen newborns shortly after birth. A lot of those with cystic fibrosis have trouble having children because their semen is too thick for sperm to move around properly. Women with the condition might also struggle to get pregnant because sperm can't travel through their thick cervical mucus. Sometimes, they need help from reproductive technologies like artificial insemination or IVF to have a baby. Additionally, it is one of the most common chronic lung diseases in children and young adults.
ETIOLOGY AND PATHOPHYSIOLOGY OF CYSTIC FIBROSIS
ETIOLOGY
Cystic fibrosis (CF) is caused by a genetic mutation, specifically an abnormality in a gene
located on the long arm of chromosome 7. CF is inherited in an autosomal recessive pattern, meaning a person must inherit two copies of the faulty CFTR gene (one from each parent) to develop the condition. Individuals who inherit only one copy of the faulty gene are carriers of the disease and typically do not show symptoms but can pass the gene on to their children. PATHOPHYSIOLOGY
Defective CFTR
Altered ion transportation
Airway Dehydration
Impaired Mucus clearance
Mucus Obstruction
Airway Destruction Bacterial Colonization
Inflammation CLINICAL MANIFESTATIONS
o Coughing o Increased mucus in the sinuses or lungs o Fatigue o Nasal Congestion caused by nasal polyps o Recurrent episodes of pneumonia o Loss of appetite o Abdominal distention o Salty-tasting skin due to elevated salt levels in sweat o Infertility in males o Reduced fertility if females o Frequent bulky, foul-smelling stools
Symptoms in Newborn may include:
o Delayed growth o Failure to gain weight o No bowel movement (meconium) o Salty-tasting skin
DIAGNOSTIC EVALUATION
Cystic fibrosis (CF) is a multi-systemic disorder that affects various organs in the body. The clinical manifestations of CF can vary widely among individuals, but some common symptoms and complications include:
o Newborn Screening: A few drops of blood are taken from a heel prick shortly after birth and placed on a special card called a Guthrie card. This test, required in all U.S. states, screens for various conditions, including cystic fibrosis (CF).
o Sweat Test: This test measures the amount of chloride in sweat, which is typically higher in individuals with CF. Pilocarpine is applied to the skin to stimulate sweat production, and the sweat is collected for analysis. It's a non-invasive test and considered the most conclusive for diagnosing CF.
o Genetic Tests: Blood samples are analyzed to detect mutations in the genes associated with CF. o Chest X-rays: X-rays of the chest can support or confirm a CF diagnosis, though they are not the sole diagnostic tool.
o Sinus X-rays: Similar to chest X-rays, sinus X-rays may help confirm CF in individuals with specific symptoms, but additional testing is usually necessary.
o Lung Function Tests: Spirometry is commonly used to assess respiratory function by
measuring lung volumes and airflow. It involves inhaling deeply and then exhaling forcefully into a spirometer device.
o Sputum Culture: A sample of sputum (spit) is collected and tested for bacteria, particularly those commonly found in CF patients, like Pseudomonas.
o Nasal Potential Difference (NPD) Test: This test measures the electrical activity in the nasal tissue to assess ion transport, a characteristic feature of CF.
o Intestinal Current Measurement (ICM): A biopsy of rectal tissue is taken to measure
chloride secretion, another indicator of CF.
TREATMENT MODALITIES
o Antibiotics to prevent and treat lung and sinus infections (Eg: Azithromycin) o Anti-inflammatory medications may help reduce the inflammation in your lungs that is caused by ongoing infections. (Eg: Steroid and Ibuprofen.) o Inhaled medicines to help open the airways. (eg: Mucolytics like Bisolven®) o Gene therapy. attempts to place a normal copy of the CFTR gene into affected cells o Oxygen therapy may be needed as lung disease gets worse.
Cystic fibrosis has no cure. The goals of CF treatment include:
o Preventing and controlling lung infections
o Loosening and removing thick, sticky mucus from the lungs o Preventing or treating blockages in the intestines o Providing enough nutrition o Preventing dehydration NURSING MANAGEMENT
o Assist patient in maintaining adequate airway clearance, reduce risk factors, perform ADLs o Regular chest physiotherapy to help clear mucus from the lungs o Involve patient/family in planning and implementing the therapeutic regimen o Monitoring and managing nutritional status closely, including assessing weight and growth regularly o Supporting patients and families emotionally and providing resources for coping with chronic illness o Encouraging regular exercise and physical activity to promote lung health o Encourage use of corticosteroids, bronchodilators, and antibiotics as prescribed to improve airway clearance
REFERENCES:
Silber- Flagg, J. Maternal & Health Nursing Care of the Childbearing Family, 8th Edition Volume 1. Wolters Kluwer. Silber- Flagg, J. Maternal & Health Nursing Care of the Childbearing Family, 8th Edition Volume 2. Wolters Kluwer. JoAnne Sillberr-Flagg. Maternal & Health Nursing Care of the Childbearing Family, 9th Edition Volume 2. Wolters Kluwer. Dangi, R. R. (2020, August 20). Cystic fibrosis [Slideshow]. SlideShare.https://www.slideshare.net/slideshow/cystic-fibrosis Professional, C. C. M. (n.d.). Cystic fibrosis. Cleveland Clinic. https://my.clevelandclinic. Med Twins. (2021b, February 8). Cystic fibrosis [CFTR, pathophysiology, signs and symptoms,diagnosis] [Video].YouTube. https://www.youtube.com/watch?v=y1ItXfl00L
