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 in childhood and early adulthood.

Introduction

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.

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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.

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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).

Epidemiology

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.

Etiology /Pathophysiology

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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

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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

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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

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Abnormal elevation of sodium and chloride concentration

Due to the defect in chloride channels, CF fibrosis also causes the sweat to become very salty

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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

Clinical Manifestations

Nonpulmonary clinical manifestations

Gastrointestinal problems (eg, pancreatic insufficiency, recurrent abdominal pain,

Biliary cirrhosis, Vitamin deficiencies, Recurrent pancreatitis,Weight loss

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

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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

Assessment and Diagnostic Findings

A sinus x ray. This test may show signs of sinusitis.

Lung function tests

A sputum culture

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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

Medical Management

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

Treatments

Nursing ManagementAssessment  History taking Physical examinations 

Ineffective airway clearance related to excess mucus production

Risk for chest infection related to retain secretion

Anticipatory grieving

Nursing diagnosis

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

Promote effective airway clearance

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

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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

Help for Anticipatory Grieving

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

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