Cystic Fibrosis PDF

Cystic fibrosis Done and presented by : Yasmeen abu Hassan Lamees Alhourani Aya Oduibat, Juman Abu zainah, Layan Alahmad Arwa & Sadeen Cystic Fibrosis - brief description Cystic Fibrosis is an inherited disease that affects a certain gene called CFTR gene which provides instructions for the CFTR pro...

Cystic fibrosis Done and presented by : Yasmeen abu Hassan Lamees Alhourani Aya Oduibat, Juman Abu zainah, Layan Alahmad Arwa & Sadeen Cystic Fibrosis - brief description Cystic Fibrosis is an inherited disease that affects a certain gene called CFTR gene which provides instructions for the CFTR protein, this effect causes the following symptoms : Thick and sticky mucus which can lead to blockage and damage to the lungs and the digestive system, Increase in the amount of salt in sweat ,etc.. There are a plenty of methods for diagnosing and treating the symptoms of Cystic Fibrosis that have been medically and scientifically approved. Cystic Fibrosis -Genetic basis Cystic Fibrosis is an autosomal recessive inherited disease caused by mutations affecting a gene located on the seventh pair of chromosomes called CFTR gene (Cystic Fibrosis Transmembrane conductance Regulator). This gene is very large and complex, more than 1800 different mutations in this gene have been found that cause CF. Office of Biological and Environmental Research of the U.S. Department of Energy Office of Science. Genetic Basis The most common mutation that results in CF is F508del that is characterized as class 2 defect, CFTR with the F508del mutation presents a deletion of three base pairs, involving the loss of the amino acid, phenylalanine, at position 508. This type of mutation accounts for approximately 70% of affected alleles. INHERITANCE UNC Department of Medicine Pathophysiology CFTR protein helps to maintain the balance of salt and water on many surfaces in the body, such as the surface of the lung. When the protein is not working correctly, chloride — a component of salt — becomes trapped in cells. Without the proper movement of chloride, water cannot hydrate the cellular surface. This leads the mucus covering the cells to become thick and sticky, causing many of the symptoms associated with cystic fibrosis. Pathophysiology Normal CFTR protein in the respiratory epithelium functions as Cl- channels ( Cl- excretion) and cause inhibition of Na. Absorption through the epithelial Na channels. Water will follow the electrolyte direction to the outside to keep the airway surface layer well hydrated. When mutation occurs , dysfunctional CFTR lead to 1 loss of Cl excretion, 2 Na and water absorption resulting in dehydration and retraction of ASL layer. Cilia need a good media to beat, so decrease in the water volume result in reduction in lubricating layer between epithelium and mucus layer (which become thick ) with compression of the cilia by mucus causing inhibition of normal ciliary and cough clearance of mucus. Pathophysiology Epidemiology Epidemiology The highest prevalence in CF is found in Europe, North America, Australia. Regardless to Race → among different ethnicities, it differs. Regardless to Sex →CF affects both males & females equally, female patients with CF demonstrate a shorter life expectancy than their male counterparts. Regardless to age → due to the implementation of newborn screening, more than 75% diagnoses occur before a child reaches 2 years of age. Clinical Manifestations 1. Salty tasting skin 2. Dehydration and electrolyte imbalance 3. Delayed puberty or fertility issues males. 4. Shortness of Breath 5. Chronic sinusitis 6. Cough with Thick Mucus 7. Intestinal blockage Oral Manifestations 1- Coronal Discoloration → A high incidence of tooth discoloration and hypoplastic defects of the permanent teeth have been reported among patients with CF. 2- Salivary glands →The effects of CF on the major salivary glands range from minor to significant. The sublingual gland is almost exclusively mucous, therefore, it is the more severely affected. Caries → It has been observed that there is less dental plaque and gingivitis in CF patients. The reduced caries rate may be related to the effects of long-term antibiotic and pancreatic enzyme replacement therapy on the oral microbiota. 4- Malocclusions → Mouth breathing and anterior open bite have been associated with chronic nasal and sinus obstruction often seen in patients with CF. Dental Management Comprehensive Evaluation: Dentists should conduct a thorough evaluation of the patient's dental and medical history, including any respiratory issues or other health concerns related to cystic fibrosis. Preventive Care: Emphasize the importance of preventive dental care, including regular dental check-ups, professional cleanings, and fluoride treatments. These measures can help prevent cavities and gum disease, which may be exacerbated in individuals with cystic fibrosis. Respiratory Complications: Dentists must be cautious to minimize the risk of respiratory complications during dental procedures Medication Interactions: CF patients typically take multiple medications to manage their condition, some of which may interact with drugs commonly used in dental practice. Compromised Immune Function: Dentists need to be careful about infection control measures to prevent the spread of pathogens within the dental office and minimize the risk of crosscontamination between patients. Challenges with Dental Equipment: CF patients may have difficulty tolerating certain dental equipment or procedures due to their respiratory condition or sensitivity to stimuli Diagnosis and Screening 1 Newborn Screening All newborns in the United States are screened for cystic fibrosis through a simple blood test. This allows for early detection and intervention. 2 Genetic Testing Genetic testing can identify the specific CFTR gene mutations responsible for responsible for cystic fibrosis. This is important for diagnosis and understanding disease severity. 3 Sweat Chloride Test The sweat chloride test measures the amount of chloride in a person's sweat, sweat, which is elevated in individuals with cystic fibrosis. CAN WE PREVENT THE RISK OF HAVING CYSTIC FIBROSIS? Cystic fibrosis is a genetic disorder caused by mutations in the CFTR gene, so it cannot be prevented in individuals who inherit two copies of the faulty gene. However, there are certain measures that can be taken to reduce the risk of having a child with cystic fibrosis CAN WE PREVENT THE RISK OF HAVING CYSTIC FIBROSIS? Genetic Counseling: Individuals who have a family history of cystic fibrosis or who are carriers of the CFTR gene mutation can undergo genetic counseling. Genetic counselors can provide information about the risk of passing on the mutation to future children and discuss options for family planning. Carrier Screening: Carrier screening tests are available to identify individuals who carry one copy of the CFTR gene mutation. This information can be useful for family planning decisions and can help identify couples at risk of having a child with cystic fibrosis. Prenatal Testing: For couples who are known carriers of the CFTR gene mutation or who have a child with cystic fibrosis, prenatal testing can be performed during pregnancy to determine whether the fetus has inherited the mutation. This information can help parents make informed decisions about the pregnancy and prepare for the care of a child with cystic fibrosis if necessary. Preimplantation Genetic Diagnosis (PGD): In vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD) allows for the screening of embryos created through IVF to identify those without the CFTR gene mutation before implantation in the uterus. This technique can be used by couples who are carriers of the CFTR gene mutation to reduce the risk of having a child with cystic fibrosis. Medications & managements plans Airway clearance techniques Mucus thinners make it easier to clear the mucus from your airways. Antibiotics prevent or treat lung infections and improve lung function Anti-inflammatory medicines, such as ibuprofen or corticosteroids, reduce inflammation. Bronchodilators relax and open airways. CFTR modulators improve how a faulty CFTR protein works, Not all CFTR modulators work for all people with cystic fibrosis. References Thompson & Thompson Genetics in Medicine. Penn Medicine, Philadelphia, The Trustees of the University of Pennsylvania. National Heart, Lung, and Blood Institute, USA. University of Rochester Medical Center, Rochester, NY. Let There Be Healthcare video marketing. Nelson Pediatrics Textbook. UNC School of Medicine. National Library of Medicine, NIH, National Library of Medicine CRISPR Basics by Leigh Henderson. Elsevier B.V. on behalf of European Cystic Fibrosis Society. Haymarket Medical Network. Cystic Fibrosis foundation. The American Academy of Pediatric Dentistry.