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Cystic Fibrosis

Cystic Fibrosis. Cystic Fibrosis – Introduction Cystic fibrosis (CF) - inherited autosomal recessive disorder in children Most common cause of chronic

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Page 1: Cystic Fibrosis. Cystic Fibrosis – Introduction Cystic fibrosis (CF) - inherited autosomal recessive disorder in children Most common cause of chronic

Cystic Fibrosis

Page 2: Cystic Fibrosis. Cystic Fibrosis – Introduction Cystic fibrosis (CF) - inherited autosomal recessive disorder in children Most common cause of chronic

Cystic Fibrosis – Introduction Cystic fibrosis (CF) - inherited autosomal

recessive disorder in children Most common cause of chronic lung disease in

children – 30,000 children & adults in US Incidence

Annually 1,000 children diagnosed 70% of patients are diagnosed by age 2 40% of CF population is age 18 and older

Median life span of 37 years

Page 3: Cystic Fibrosis. Cystic Fibrosis – Introduction Cystic fibrosis (CF) - inherited autosomal recessive disorder in children Most common cause of chronic

Etiology--Cause

Genetically transmitted disease Genes (DNA) From both parents

Gene located on 7th chromosome 2 copies of genes

needed to inherit disease

Carrier states

Page 4: Cystic Fibrosis. Cystic Fibrosis – Introduction Cystic fibrosis (CF) - inherited autosomal recessive disorder in children Most common cause of chronic

Where is the CF Gene? The CFTR gene is located from base

pair 117,120,016 to base pair 117,308,718 on chromosome 7.

It is located on the long arm (q arm) of chromosome 7.

Page 5: Cystic Fibrosis. Cystic Fibrosis – Introduction Cystic fibrosis (CF) - inherited autosomal recessive disorder in children Most common cause of chronic
Page 6: Cystic Fibrosis. Cystic Fibrosis – Introduction Cystic fibrosis (CF) - inherited autosomal recessive disorder in children Most common cause of chronic

Pathophysiology Defective gene

Related to protein involved in chloride ion transport

Body produces thick, sticky mucus Clogs the lungs

Stagnant mucus Obstructs the

pancreas Malabsorption &

malnutrition

Page 7: Cystic Fibrosis. Cystic Fibrosis – Introduction Cystic fibrosis (CF) - inherited autosomal recessive disorder in children Most common cause of chronic

Symptoms Symptoms may include

Meconium ileus Appears at birth

Salty-tasting skin When newborn is kissed

Steatorrhea Greasy, bulky and foul smelling stool

Poor growth/weight gain in spite of good appetite Chronic coughing, at times with phlegm Frequent lung infections

Page 8: Cystic Fibrosis. Cystic Fibrosis – Introduction Cystic fibrosis (CF) - inherited autosomal recessive disorder in children Most common cause of chronic

Diagnostic Tests Sweat Test

Measures sodium or chloride in person’s sweat

Two samples Ensure false-

positive does not occur

Not reliable on newborns

Genetic Analysis Newborn with

signs and symptoms may confirm diagnosis with blood test.

Inherited disease Recommend

checking family members and first cousins

Page 9: Cystic Fibrosis. Cystic Fibrosis – Introduction Cystic fibrosis (CF) - inherited autosomal recessive disorder in children Most common cause of chronic

Common Problems Ineffective airway

clearance related to tracheobronchial secretions and obstruction

Imbalanced nutrition: less than body requirements related to inability to digest food or absorb nutrients

Risk for infection related to chronic pulmonary disease

Page 10: Cystic Fibrosis. Cystic Fibrosis – Introduction Cystic fibrosis (CF) - inherited autosomal recessive disorder in children Most common cause of chronic

Planning & Interventions

Provide respiratory therapy Administer medications Meet nutritional needs Provide psychosocial support Discharge planning and home teaching

Page 11: Cystic Fibrosis. Cystic Fibrosis – Introduction Cystic fibrosis (CF) - inherited autosomal recessive disorder in children Most common cause of chronic

Treatments

Aimed at relieving symptoms and complications Antibiotics

Aerosolized Mucus-thinning drugs

Thins secretions Easier to cough up

Bronchodilators Relaxes smooth muscles in the airways

Page 12: Cystic Fibrosis. Cystic Fibrosis – Introduction Cystic fibrosis (CF) - inherited autosomal recessive disorder in children Most common cause of chronic

Treatments Bronchial airway drainage

Postural drainage Oral enzymes and better nutrition

High calorie diet Special vitamins & pancreatic enzymes

Lung transplant Pain relievers

Ibuprofen

Page 13: Cystic Fibrosis. Cystic Fibrosis – Introduction Cystic fibrosis (CF) - inherited autosomal recessive disorder in children Most common cause of chronic

Parent and Child Education Respiratory

infections Avoid exposure

Chest percussion & postural drainage

Diet

Community resources

Genetic counseling

Written information Home care

Support services

Page 14: Cystic Fibrosis. Cystic Fibrosis – Introduction Cystic fibrosis (CF) - inherited autosomal recessive disorder in children Most common cause of chronic

References

Cystic Fibrosis Foundation. (2007). About cystic fibrosis: Frequently asked questions. http://www.cff.org/AboutCF/Faqs/

Mayo Clinic. (2007). Cystic fibrosis – diseases and conditions. http://www.mayoclinic.com/health/cystic-fibrosis/DS00287/DSECTION=6

Page 15: Cystic Fibrosis. Cystic Fibrosis – Introduction Cystic fibrosis (CF) - inherited autosomal recessive disorder in children Most common cause of chronic

References

MedlinePlus. (2006). Cystic fibrosis. https://www.nlm.nih.gov/medlineplus/ency/imagepages/18135.htm

National Institutes of Health. (2006). What causes cystic fibrosis?. www.nhlbi.nih.gov/.../Diseases/cf/cf_causes.html


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