cystic fibrosis by kristy sandman. physiology genes found in nucleus of each cell genes made up of...
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Cystic Fibrosis
By
Kristy Sandman
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Physiology
Genes found in nucleus of each cell
Genes made up of nucleotides
Genes can be rearranged or mutated
Genes serve 2 functions
1. Inheritance
2. Proteins
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Proteins
Made in cell
Transported to golgi network
Sorted and delivered
Several functions
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Pathophysiology
Defective gene on chromosome 7
CFTR
-- Regulate chloride & sodium
channels
-- Produces thick, sticky Mucus
-- Conditions favorable for bacteria
& infections
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Pathophysiology
Secretion of digestive enzymes impaired
-- leads to malnutrition
Mucus builds up in respiratory passageways
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Pathophysiology
Bacteria
Staphylococcus Aureus
Haemophilus Influenzae
Pseudomonas Aeruginosa
Burkholderia Cepacia
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Inheritance1 / 25 Americans of European descent are carriers
2 normal genes = normal
1 normal, 1 mutated = carrier
2 mutated = cystic fibrosis
R R R r
R r r r
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Diagnoses
1. Sweat Test
Use of iontophoresis to stimulate sweating
Sweat absorbed by filter paper & paper is then analyzed
2. Genetic Test
Genes are studied in a sample of blood or tissue
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Signs & Symptoms
GI system
Babies born w/ meconium ileus
Mucus obstructs pancreatic ducts
Malnutrition
Diabetes
Gall stones in liver
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Signs & Symptoms
Respiratory System
Nose, throat, trachea, bronchii, bronchiles, alveoli
Swelling of sinuses
Hair like projections unable to move mucus
Build up of mucus = infection
Chronic bacteria
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Persons tire easy & experience shortness of breath
Lung volume & resiratory effort tested regularly
Sputum tested for bacteria
Sweat Glands
Sweat much saltier than normal
Problem in heat & during exercise
Compensation by adding salt to food
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Fertility
98% men infertile
Women fertile
Puberty delayed
Nutrition
High Calorie diets
Vitamin supplementation
Monitored Ht., wt., growth
Tube feeding
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Pharmacology1. Acetyloysteine (Mucomyst)
Dissolve mucin
Loosen secretions
2. Aerosols
Used w/ antibiotics, antivirals, proteins
Meds in a fine mist
Target action site
Low cost, good adherance by users
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3. AntibioticsControl infections
4. BronchodilatorsOpen airways
5. CorticosteroidsReduce inflammation in lungs
6. IbuprofenReduces inflammation in lungs
7. Immune Enhancement drugsPrevent secondary infections
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8. Morphine & FentanylAnalgesics
9. Pancreatic EnzymesHelp digest food, taken w/ every meal
10.Aminoglycoside AntibioticAids cells in making normal proteins
11. CyclosporinePrevents organ rejection
12. DNASEBreaks down DNA in bacteria in mucus
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13. Leuprolide Acetate
Prevents infertility
14. Tobramycin for Inhalation (TOBI)
Inhaled antibiotic
Treats Pseudomonas Aeruginosa
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Chest Physio-Therapy
Beneficial in moving secretions
Improves respiratory sufficiency
Allows more expansion of lungs
Strengthens respiratory muscles
Several contraindications
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1. Flutter
Breathe into a tube w/ a ball in it
2. Coughing
Helps break up secretions
3. Deep Breathing
Expands the lungs for better distribution of air
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4. PercussionStriking the chest to break up secretions
5. Postural DrainageUse of gravity to drain secretionsHead / chest down position for up to 15 minutes
6. TurningTurning from side to side allows for more expansion of the lungs
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7. Vibration
Helps break up lung secretions
Can be done manually or mechanically
Repeated several times per day
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Gene Therapy
Defective genes replaced w/ normal genes
CFTR gene coded in 1989, genetic test developed shortly after that
Researchers use a virus to deliver the corrected gene to the cell
Obstacle is finding receptor for the virus
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Lung TransplantsAggressive therapy used for severe pulmonary illnessFirst performed in 19831,300-1,400 performed each year, 65% in the U.S.List of 4,000 on the waiting list for a lungAvg. wait is 2 yearsVery expensive - $120,000 for surgery$30,000/yr for meds & follow up care
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CF, 2nd largest group for lung transplants
2nd most common cause of death b/c of rejection
50% of adults, 80% of children live longer than 2 yrs after transplant
Candidates chosen based on prognostic factors
-- FEV best predictor for survival
-- FEV <30% best candidates b/c 2 yr mortality rate <50%
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Other Factors
-- age
-- sex
-- weight
-- pancreatic function
-- diabetes
-- infection
-- bacteria
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ExercisingExercising is very beneficial, even in severe lung diseaseProgram should be individualized
BenefitsIncreased EnduranceIncreased lung functionDecreased DyspneaImproved Quality of life
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TypesAny exercise that involves major muscle groups, esp. arm & shoulder musclesBiking & walking are indicated
FrequencyMinimum of 3-5 days week
Time2- 15 min. sessions or 1- 30 min session, depending on symptoms
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Intensity
Work up to 20-30 min
May need to take frequent breaks
Breathing
Pursed lip breathing
Supplemental oxygen