Cystic Fibrosis

By

Kristy Sandman

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

Proteins

Made in cell

Transported to golgi network

Sorted and delivered

Several functions

Pathophysiology

Defective gene on chromosome 7

CFTR

-- Regulate chloride & sodium

channels

-- Produces thick, sticky Mucus

-- Conditions favorable for bacteria

& infections

Pathophysiology

Secretion of digestive enzymes impaired

-- leads to malnutrition

Mucus builds up in respiratory passageways

Pathophysiology

Bacteria

Staphylococcus Aureus

Haemophilus Influenzae

Pseudomonas Aeruginosa

Burkholderia Cepacia

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

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

Signs & Symptoms

GI system

Babies born w/ meconium ileus

Mucus obstructs pancreatic ducts

Malnutrition

Diabetes

Gall stones in liver

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

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

Fertility

98% men infertile

Women fertile

Puberty delayed

Nutrition

High Calorie diets

Vitamin supplementation

Monitored Ht., wt., growth

Tube feeding

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

3. AntibioticsControl infections

4. BronchodilatorsOpen airways

5. CorticosteroidsReduce inflammation in lungs

6. IbuprofenReduces inflammation in lungs

7. Immune Enhancement drugsPrevent secondary infections

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

13. Leuprolide Acetate

Prevents infertility

14. Tobramycin for Inhalation (TOBI)

Inhaled antibiotic

Treats Pseudomonas Aeruginosa

Chest Physio-Therapy

Beneficial in moving secretions

Improves respiratory sufficiency

Allows more expansion of lungs

Strengthens respiratory muscles

Several contraindications

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

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

7. Vibration

Helps break up lung secretions

Can be done manually or mechanically

Repeated several times per day

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

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

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%

Other Factors

-- age

-- sex

-- weight

-- pancreatic function

-- diabetes

-- infection

-- bacteria

ExercisingExercising is very beneficial, even in severe lung diseaseProgram should be individualized

BenefitsIncreased EnduranceIncreased lung functionDecreased DyspneaImproved Quality of life

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

Intensity

Work up to 20-30 min

May need to take frequent breaks

Breathing

Pursed lip breathing

Supplemental oxygen