cystic fibrosis

2.  Cystic fibrosis is an autosomal recessive disorder
that affects epithelial cells of the respiratory ,
gastrointestinal and reproductive tracts and leads
to abnormal exocrine gland secretions.
 An individual must inherit a defective copy of the
CF gene (one from each parent) to have CF.
 Although it can affect many organ system, CF is
particularly damaging to the lungs, leading to
COPD in childhood and early adulthood.

3.  Every person inherits two CF genes -- one from
each parent. children who inherit a faulty gene
from each parent will have cystic fibrosis.
 Children who inherit one faulty gene and one
normal gene will be "CF carriers." Cystic fibrosis
carriers usually have no symptoms of cystic
fibrosis, but they can pass the faulty gene on to
their children.

5.  In cystic fibrosis (CF) there is an alteration in
the viscosity and tenacity of mucus produced
at epithelial surfaces.
 The classical form of the syndrome includes
increased broncho-pulmonary secretion and
infection and pancreatic insufficiency, with a
high sweat sodium and chloride
concentration.

6.  The frequency of CF is 1 in 2,000 to 3,000 live
births, and there are approximately 30,000
children and adults with this disease in the
United States (Cystic Fibrosis Foundation, 2002).
 Although CF was once considered a fatal
childhood disease, approximately 38% of people
living with the disease are 18 years of age or
older (Cystic Fibrosis Foundation,2002).

7.  CF is due to a mutation in the CF gene on
chromosome 7.
 The CF gene encodes a protein known as the cystic
fibrosis transmembrane regulator (CFTR).
 The abnormal CFTR protein in patients with CF
leads to disruption of chloride channels on the
cells.

10.  Defective chloride transport cause more water
and sodium reabsorption than normal.
 Secretion in affected organs becomes thick
and viscous obstructing the glands and
ducts.
 Dilatation of the secretory glands damage
to the exocrine tissue

11.  The hallmark pathophysiologic effects of CF include.
 Excessive mucous production in the respiratory tract
with impaired ability to clear secretions and
progressive COPD:
 Atelectasis
 Infection
 Bronchiectasis
 Dilation of distal airway.
 Acute and chronic damage to the lung and scarring and
fibrosis of lung tissue
 Chronic hypoxemia

12. Pancreatic enzyme deficiency and impaired
digestion
 Pancreatic insufficiency and impaired enzyme
secretion impaired digestion and absorption
of protein, carbohydrate & fats
 Degenerative and fibrotic change DM

13. Abnormal elevation of sodium and chloride
concentration
 Due to the defect in chloride channels, CF
fibrosis also causes the sweat to become very
salty

14. Pulmonary manifestations
 Productive cough
 wheezing
 Hyperinflation of the lung fields on chest x-
ray,
 Frequent chest infections, and coughing or
shortness of breath
 Pulmonary function test results consistent with
obstructive airways disease

16.  Gastrointestinal problems (eg, pancreatic
insufficiency, recurrent abdominal pain,
 Biliary cirrhosis,
 Vitamin deficiencies,
 Recurrent pancreatitis,
 Weight loss

17.  Genitourinary problems (male and female infertility)
 Meconium ileus in newborn babies
 Clubbing of the extremities.
 Salty tasting skin
 Poor growth and poor weight gain despite a normal
food intake

19. Sweat chloride concentration test:
 Sweat test: sweat chloride values of greater than 60
mEq/L
 Genetic tests to find out what type of CFTR defect
is causing CF.
 Chest x ray: Inflated lung, lungs fibrosis and
scaring

20.  A sinus x ray. This test may show signs of sinusitis.
 Lung function tests
 A sputum culture

21. Cystic fibrosis (CF) has no cure. The goals of CF
treatment include:
 Preventing and controlling lung infections
 Loosening and removing thick, sticky mucus from
the lungs
 Preventing or treating blockages in the intestines
 Providing enough nutrition
 Preventing dehydration

22.  Antibiotic medications
 Bronchodilators
 Mucus clearance stratigies
 Anti-inflammatory agents may
 Supplemental oxygen
 Lung transplantation
 Gene therapy
 Lifestyle Changes
 Pulmonary Rehabilitation

23. Assessment
 History taking
 Physical examinations

24.  Ineffective airway clearance related to excess
mucus production
 Risk for chest infection related to retain
secretion
 Anticipatory grieving

25.  Assess respiratory status, including vital
signs, breath sounds, Sao2 and skin color at
least every 4 hourly
 Assess cough and sputum (amount, color,
consistency and possible odor).
 Monitor ABG results: report increasing
hypoxemia and other abnormal result to the
physician
 Place the patient in the high fowler’s position.
Encourage frequent position change and
ambulation as allowed

26.  Assist to cough, deep breathe and use assistive
devices.
 Provide endotracheal suctioning using aseptic
technique as ordered
 Work with the physician and respiratory therapist
to provide pulmonary hygiene measures, such as
postural drainage, percussion and vibration.
 Administer prescribed medicines as ordered and
monitor the effects

27.  Spend time with the client and family.
 Answer question honestly
 Encourage the family to express their feelings,
fears and concerns
 Assist with the understand the grieving process
and acceptance of feelings as normal
 Help the client and family make decisions
regarding treatment and care
 Encourage use of other support systems, such as
spiritual and social groups

28.  Discuss advance directives (the living will) and
power of attorney for health care with the client and
family