Cystic Fibrosis

Cystic fibrosis is an inherited condition of secretory glands, including mucus and sweat-producing glands.

cystic fibrosis

The lungs, pancreas, liver, intestines, sinuses, and sex organs are affected by cystic fibrosis.
Cystic fibrosis mostly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs.

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In cystic fibrosis, more salt is lost during sweating. This can upset the balance of minerals in blood and cause various health problems.
In cystic fibrosis risk of diabetes, osteoporosis, infertility in men and conceiving problem in women increases.
Commonly Seen In?

Most children with CF are diagnosed by age 2, however, a small number are not diagnosed until age 18 or older.

What Causes Cystic Fibrosis

Cystic fibrosis is caused by a defective gene that results in the production of thick and sticky fluid, called mucus (which helps the organs from drying and getting infected).

Every person inherits two CFTR genes—one from each parent. Children who inherit a faulty CFTR gene from one parent and a normal CFTR gene from the other parent will be “CF carriers.”

There is 25 percent chance of inheriting two faulty genes.

Cystic Fibrosis Signs and Symptoms

Symptoms in newborns may include: • Delayed growth
• Failure to gain weight
• No bowel movements in first 24 to 48 hours of life

Symptoms of digestive system:
• Nausea and loss of appetite
• Pale or clay-colored stool that smells foul.
• Weight loss, dehydration
• Pancreatitis
• Gallstones
• Liver diseases
• Constipation
• Diabetes
• Rectal prolapse

Symptoms of respiratory system:
• Frequent coughing
• Pseudonoma infection
• Pneumothorax
• Bronchiectasis
• Frequent sinusitis
• Recurrent episodes of pneumonia.

Other signs and symptoms:
• Fever
• More sputum
• Tiredness/Weakness
• Heat stroke
• Low B.P.
• Infertility

Investigations of Cystic fibrosis

A blood test is done to detect cystic fibrosis to check variations in a gene known to cause this condition.

Other tests include:
• Sweat chloride test is the diagnostic test. A high salt level in the patient’s sweat indicates cystic fibrosis.
• Chest x-ray or CT scan
• Lung function tests.
• Sputum culture
• Secretin stimulation test
• Fecal fat test
• Measurement of pancreatic function
• Upper GI and small bowel series
• Trypsin and chymotrypsin in stool

Treatment of Cystic fibrosis

Treatment for lung problems includes:
• Antibiotics to prevent and treat lung and sinus infections.
• Flu vaccine and pneumococcal polysaccharide vaccine yearly
• Lung transplant in some cases
• Oxygen therapy may be needed as lung disease gets worse
• Oral pancreatic enzymes to help you digest fats and proteins and absorb more vitamins.
• Anti-inflammatory medicines help in reducing swelling in airways that are caused by infections.

Diet / Management of Cystic fibrosis

• Prevent and control lung infections
• Sticky mucus from the lungs
• Prevent or treat blockages in the intestines
• High protein diet
• Supplements of vitamins A, D, E, and K to replace the fat-soluble vitamins that your intestines can’t absorb.
• High-calorie shakes to provide you with additional nutrients
• Aerobic exercise that makes you breathe harder helps loosen the mucus in your airways so you can cough it up. Exercise also helps improve your overall physical condition.

Prognosis of Cystic fibrosis

Most children with cystic fibrosis remain healthy until they reach adulthood.
Lung disease worsens where the person is disabled. Average lifespan for people having cystic fibrosis is approximately 37 years. There is a dramatic increase over the last three decades.
An early diagnosis of CF and a comprehensive treatment plan can improve both survival and quality of life.
Usually, death occurs by lung complications.

Complications of Cystic fibrosis

• Bowel problems, such as gallstones, intestinal obstruction, and rectal prolapse.
• Chronic respiratory failure.
• Blood during coughing.
• Malnutrition
• Liver disease or liver failure, pancreatitis, biliary cirrhosis
• Diabetes
• Infertility
• Nasal polyps and sinusitis
• Osteoporosis and arthritis
• Pneumonia, recurrent

Differential diagnosis of Cystic Fibrosis

• Aspergillosis
• Bronchiectasis
• Bronchiolitis
• Sinusitis
• Asthma
• Pediatric Celiac Disease
• Failure to Thrive
• Primary Ciliary Dyskinesia

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