Cystic fibrosis

What is Cystic fibrosis?

Cystic fibrosis is a chronic multisystem disorder characterized by exocrine gland dysfunction. The mucus produced by the exocrine glands is abnormally thick, tenacious and copious causing obstruction of the small passageways of the affected organs, particularly in the respiratory, gastrointestinal and reproductive systems.

It is an autosomal recessive trait disorder and one of the most common inherited disease in children.

Causes of Cystic fibrosis

Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene which is present on the chromosome seven. This gene regulates the movement of salt in and out of cells.

Cystic fibrosis is an autosomal recessive gene disorder so children need to inherit one copy of the gene from each parent in order to have the disease. If children inherit only copy, they won't develop disease. However, they will be carriers and could pass the gene to their own children.

Symptoms of Cystic fibrosis

Children with cystic fibrosis can have variety of symptoms, including:

1. Respiratory symptoms:

Sign and symptoms are produce by the stagnation of mucus in the airway.

• Emphysema & telecasts occurs as the airways become obstructed.
• Chronic hypoxemia causes contraction and hypertrophy of muscle fibers in pulmonary arteries & arterioles leading to pulmonary hypertension.
• Pneumothorax
• Hemoptysis
• Clubbing of the fingers & toes
• Wheezing & cough
• Dyspnea
• Cyanosis
• Barrel chest

2. Gastrointestinal symptoms:

• Hypo-albuminemia
• Meconium ileus
• Deficiency of fat soluble vitamin
• Intestinal obstruction
• Stools are frothy and foul smelling
• Malnutrition
• Pancreatic enzyme deficiency and pancreatic fibrosis caused by duct blockage. Pancreatic fibrosis can places the child at risk for diabetes mellitus.

3. Integumentary system symptoms:

• Increase sodium and chlorine in sweat.
• Parents report that the infant taste is very salty when kissed.
• Dehydration and electrolyte imbalance.

4. Reproductive system symptoms:

• Delay puberty in girls.
• Fertility can be inhibited by the highly viscous cervical secretions which act as a plug and block sperm entry.
• Males are usually sterile, caused by the blockage of the vas deferens.

Cystic fibrosis diagnosis

Diagnosing cystic fibrosis is a multistep process, and should include a newborn screening, a sweat test, a genetic or carrier test is performed. Quantitative sweat chloride test is positive.

Treatment of Cystic fibrosis

There is no cure for cystic fibrosis. Treatment is based to relive symptoms, reduce complications, and improve quality of life.

Respiratory system intervention

• Nurse monitor respiratory status of child.
• Chest physiotherapy is given to maintain pulmonary hygiene.
• A flutter mucus clearance device facilitates the removal of mucus.
• A positive expiratory pressure mask may be prescribed, use of this mask forces secretion to the upper airway for expectoration.
• Bronchodilator medication help to remove secretion administered before chest physiotherapy.
• Aerosolized and I.V. antibiotics for prevention of infection.
• Oxygen therapy to relive hypoxia.
• Nurse monitor for hemoptysis more than 250 ml in 24 hour for an older child need  to report for health care provider.

Gastrointestinal system intervention

• Provide high calorie, high protein and well-balanced diet with multivitamin.
• Nurse monitor the child weight to find out failure to thrive.
• Nurse monitor stool pattern to find out signs of intestinal obstruction.
• Give pancreatic enzyme. (The pancreatic enzyme administer within 30 minutes of eating & administered with all meals)
• Enzyme should not be given in NPO child
• Teach child to sit in upright position after eating (To prevent child from GERDS).
• Monitor blood glucose levels and signs of diabetes mellitus.
• Nurse ensure adequate salt intake and fluids.

Nurse provide emotional support to the parents and educate the parents and child about all of the aspects of care for the disorder.