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Cystic Fibrosis- Audrey Ward - Coggle Diagram
Cystic Fibrosis- Audrey Ward
Pathogenesis
CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) mutations results in:
Low chloride secretions, high sodium and water reabsorption, dehydrated mucus so prone to bacteria, high secretions of respiratory tract and GI tract that are thick and build up more leading to cystic fibrosis related issues such as sinus, lung, intestinal, pancreatic, liver, and urogenital disease
Typical diagnosis will occur at 6-8 months, differs among each patient. Pathogenesis will vary among each person.
Cystic fibrosis begins with an issue in the cystic fibrosis gene.
Starts as neonates with symptoms such as wheezing or coughing and constant respiratory infections with a poor GI tract
Lungs of a Cystic Fibrotic baby progression
Lungs seem normal at birth
Lung infection occurs
Severe inflammation of the lungs
Ongoing cycles of infection and inflammation throughout life
Intestinal issues of meconium ileus and pancreatic insufficiency can be seen at birth or later in life
Diagnosed as an adult can be described as a pancreatic insufficiency with a persistent cough
Clinical Manifestations
Signs/symptoms vary between age and individuals because unique to each diagnosis
Neonatal Symptoms
Meconium ileus (bowel obstruction) or extreme swelling
1 year and younger Symptoms
Respiratory symptoms: coughing and frequent infections in the respiratory system. Polyuria and polyphagia is typical.
Adulthood Diagnosed Symptoms
Pancreatic insufficiency with a cough.
Common GI symptoms/signs at any age
Meconium ileus, distension and pain over abdomen, GI bleeding, frequent stools, steatorrhea (odored stools)
Common Respiratory symptoms/signs at any age
Wheezing, constant infections or pneumonia, coughing, dyspnea, and asthma.
Common Genuitourinary symptoms/signs at any age
Testicles not descending, no menstrual cycle or decreased sexual development
Related signs
Rhinitis in the nose, clubbing of finger nails, increased sputum, cyanosis, dry skin, chest pain, infertility in males, scoliosis, and kyphosis
Complications due to CF
GERD (reflux), pancreatitis, fat soluble vitamin deficiency due to pancreatic insufficiency, liver failure, and osteoporosis
Diagnostics
Lung Testing
Pulmonary function testing, nasal potential difference measurement, bronchoalveolar lavage, and sputum microbiology
Pulmonary function tests include: pulse oximetry, arterial blood gases tests, and incentive spirometry
Genotyping
Analysis of the genes to find a positive family history of CF
Sweat Chloride Test
Usually not done on infants because inaccurate due to low quantity of sweat
Value more than 60 mmol/L is a positive test
Performed twice for accuracy
Requires collecting of the sweat in a quantity of about 100mg
Children Diagnoses
Chronic obstructive pulmonary disease, pancreatic insufficiency, and/or a previous family history of cystic fibrosis
Adult Diagnoses
Positive testing of the genes or a positive testing of sweat chloride and a diagnosis of one of these
Usually diagnosed around 6 to 8 months of age
Imaging Testing
Ultrasonography: tests for meconium ileus associated to Cystic Fibrosis
Radiography: shows inflammation of the chest and thickening of the bronchioles
Chest CT scan: can help in determining lung changes due to disease
Contract barium enema: helps diagnose meconium ileus
Infant Testing
Prenatal
Sonography of meconium ileus in fetus requires DNA test of mother to see if she’s a carrier
Neonatal
Test for increased amounts of immunoreactive trypsinogen, if high then possible CF positive
Postnatal
Sweat chloride test at least 2 days after birth
Mutation analysis to test for mutations of CF
Treatments
First diagnosed
Baselines, therapy, counseling about disease and necessary equipment, hospital admission
Mild cystic fibrosis treatment
Airway clearance, bronchodilator treatment, drainage of the chest, medication of Pulmozyme, oral antibiotics
Long term treatment
Visiting specialists such as pulmonologists,
Visit doctors every 2 months for check up on lungs, growth, GI tract, symptoms, complications
Lung transplant for severe end-stage lung disease associated to CF
Six years or older should have
Hypertonic saline to help lung functioning and meds such as Cystic fibrosis transmembrane conductance regulator, lumacaftor
Prenatal with meconium ileus: tertiary care facility and sonographies
Common meds used to treat CF
Pancreatic enzyme supplements, vitamins, mucolytics, oral/IV antibiotics, bronchodilators, anti-inflammatories, cystic fibrosis transmembrane conductance regulator, corticosteroids, Mainly vitamins A, D, E, K
Occasional surgeries depending on severity of complications of respiratory and GI tract
Lifestyle Treatment
High fat diet can help supply fat soluble vitamins lost to pancreatic insufficiency
Exercise to improve respiratory abilities such as coughing and deep breathing, and aerobic exercises
Goals of treatment
Keep lungs functioning as best as possible
Supply missing nutrients for growth
Watch for complications
Risk Factors
Inherited as genetic disorder
Have to have two copies of the gene from each parent or else if they only receive one then they can be a carrier
Most common in white people of European origin
In African Americans, usually diagnosed at young age with poor nutrition
Females might have worse cases because of the hormones released during puberty that affect the immune system
Females of a lower socioeconomic class are likely to have a worse health outcome compared to males of a high socioeconomic class
Decreased muscle mass, small stature, or a low BMI increase chances of dying from CF
Want to maintain the weight for your age to decrease risks in the future for worsening CF
Exposure to secondhand smoking could worsen CF
Incidence/Prevalence
Location/Ethnicities
North Europe: 1 case per 3,200-3,500 people
Hispanics: 1 case per 9,200-9,500 people
African Americans: 1 case per 15,000-17,000 people
Asian Americans: 1 case per 31,000 people
More likely to occur in the European region or North and South America
Survival rate is about 40 years old
Variances for different age groups
-Usually diagnosed at 6-12 months
-Can be diagnosed later in life
Impacts vulnerable populations of a low socioeconomic status due to decreased access to resources for treatment and expensive medicine
Autosomal recessive disease
If each parent is heterozygous then the children have a 25% chance of getting cystic fibrosis
References
Mayo Foundation for Medical Education and Research. (2020, March 14). Cystic fibrosis. Mayo Clinic.
Retrieved from
https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700
.
Sharma, G. D. (2020, January 24). Cystic Fibrosis. Retrieved from
https://emedicine.medscape.com/article/1001602-overview
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Huether, S. E., & McCance, K. L. (2020). Understanding pathophysiology (7th ed.). St. Louis, MO: Elsevier. doi:9780323639088