CYSTIC FIBROSIS

POOJA SHARMA
A1106620022
 Introduction
• 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.

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 Introduction
Every person inherits two CF genes -
one from each parent. children who
inherit a faulty gene from each parent
will have cystic fibrosis. Click icon to add picture
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.

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

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 Epidemiology
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).
Click icon to add picture
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).

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 Etiology/Pathophysiology

CF is due to a mutation in the CF gene

on
chromosome 7.
Click icon to add picture
•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

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. 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.

The hallmark pathophysiologic effects of CF include.

Click icon to add picture
Excessive mucous production in the respiratory tract
with impaired ability to clear secretions and progressive
COPD:
•Infection
•Dilation of distal airway.
Acute and chronic damage to the lung and scarring and
fibrosis of lung tissue
• Chronic hypoxemia

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 .

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Clinical Manifestation
Pulmonary manifestations

- Productive cough
- Wheezing Click icon to add picture
- Hyperinflation of the lung fields on chest
x-гау,
- Frequent chest infections, and coughing
or shortness of breath
- Pulmonary function test results consistent
with obstructive airways disease

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Clinical Manifestation
Non-Pulmonary manifestations

• Gastrointestinal problems (eg, pancreatic

insufficiency, recurrent abdominal pain. Click icon to add picture
• Biliary cirrhosis
• Vitamin deficiencies
• Recurrent pancreatitis,
• Weight loss

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Assessment and Diagnostic Findings
Sweat chloride concentration test: sweat chloride
values of greater than 60 mEq/L.

Genetic tests - to find out what type of CFTR

defect is causing CF.
Click icon to add picture
Chest x ray - Inflated lung, lungs fibrosis and
searing

A sinus x ray - This test may show signs of

sinusitis.

Lung function tests

A sputum culture

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Medical Management
Cystic fibrosis (CF) has no cure. The goals
of CF treatment include:

Preventing and controlling lung infections Click icon to add picture

Loosening and removing thick, sticky
mucus from the lungs
Preventing or treating blockages in the
intestines
Providing enough nutrition
Preventing dehydration

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 Treatment
• Antibiotic medications
• Bronchodilators
• Mucus clearance strategy
• Anti-inflammatory agents may Click icon to add picture
• Supplemental oxygen
• Lang transplantation
• Gene therapy
• Lifestyle Changes
• Pulmonary Rehabilitation

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 thank you
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