Cystic Fibrosis. Cystic Fibrosis – Introduction Cystic fibrosis (CF) - inherited autosomal...
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Transcript of Cystic Fibrosis. Cystic Fibrosis – Introduction Cystic fibrosis (CF) - inherited autosomal...
Cystic Fibrosis
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
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
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.
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
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
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
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
Planning & Interventions
Provide respiratory therapy Administer medications Meet nutritional needs Provide psychosocial support Discharge planning and home teaching
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
Treatments Bronchial airway drainage
Postural drainage Oral enzymes and better nutrition
High calorie diet Special vitamins & pancreatic enzymes
Lung transplant Pain relievers
Ibuprofen
Parent and Child Education Respiratory
infections Avoid exposure
Chest percussion & postural drainage
Diet
Community resources
Genetic counseling
Written information Home care
Support services
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
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