cystic fibrosis is a hereditary disease which can transfer from one generation to another generation. it is only effective one both of two partner contain defective gene, if only one partner contain the defective gene he/se will be carrier no an effective
3. What is Cystic Fibrosis
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 (Chronic obstructive
pulmonary disease )in childhood
and early adulthood.
Cystic Fibrosis
4.
5. Every person inherits two CF genes
Mother
Father
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.
What will occur if a child gets only one defective gene either from mother or father
6. In cystic fibrosis (CF) there is an alteration in the viscosity and tenacity of mucus produced at
epithelial surfaces.
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
Although CF was once considered a fatal childhood disease, approximately 38% of people
living with the disease are 18 years of age or older
The classical form of the syndrome includes increased broncho-pulmonary secretion and
infection and pancreatic insufficiency, with a high sweat sodium and chloride concentration.
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.
8. 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
Abnormal elevation of sodium and chloride concentration
• Due to the defect in chloride channels,CF fibrosis also causes the sweat to become very salty
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
9. Clinical manifestation
• 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
10. Nonpulmonary manifestation
• Gastrointestinal problems (eg, pancreatic insufficiency, recurrent abdominal pain,
• Biliary cirrhosis,
• Vitamin deficiencies,
• Recurrent pancreatitis,
• Weight loss
• Genitourinary problems (male and female infertility)
• Salty tasting skin
• Poor growth and poor weight gain despite a normal food intake
11. Assement and diagnostic finding
• 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
• A sinus x ray:This test may show signs of sinusitis.
• Lung function tests
12. Medical management
• 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
