Cystic Fibrosis | Symptoms and Diagnosis of Cystic Fibrosis

What is Cystic Fibrosis

Cystic fibrosis (CF) which is also known as mucoviscoidosis, is an autosomal recessive disorder and is major cause of pancreatic insufficiency and respiratory failure in childhood. Cystic fibrosis is characterized by generalized dysfunction of all exocrine glands, including those which secrete mucus.
Blockage by viscid secretion causes cystic changes in the pancreas and also bronchiectasis.

Causes of Cystic Fibrosis

• Cystic fibrosis or also known as mucoviscoidosis in the new born and may be associated with intestinal obstruction due to inspissated meconeum the so called meconeum ileus, sometimes with non-canalization of the part near about the region of ceacum.
• In surviving infants, it may be followed with respiratory disease with pneumonia and bronchio-pneumonia.
• In older children, however, respiratory symptoms are less prominent; where as, complication like those of celiac disease are prominent. There is excessive secretion of all the glands of the body in this condition.

Symptoms of Cystic Fibrosis

Clinical features

• In infancy cystic fibrosis may be present frequently with repeated attacks of respiratory infection.
• Defective pancreatic enzymes give rise to impaired digestion and mal-absorption of the fats.
• Stool are bulky, foamy and foul smelling.
• The child is often poorly nourished. Complications include intussusceptions and obstruction due to faecal masses.
• The respiratory problems become progressively more important in the adolescent and adults and determine the fate of the individual by contrast mal-absorption is less troublesome.
• There may be bronchiectasis, recurrent haemoptysis, pulmonary fibrosis and right ventricular failure.
• Some times there is cirrhosis leading to portal hypertension.
• Females with cystic fibrosis may become pregnant but males are always infertile.

Cystic Fibrosis Diagnosis

Investigations
In the child, the diagnosis is established by the finding of an increase in the concentration of sodium in the sweat.
Sodium (pilocarpin iontophoresis).
Sodium < 85mmol/l
Potassium < 25mmol/l
Minimum sample of 50ml.
These are the normal levels.

Cystic Fibrosis Test

The test is difficult to interpret after adolescence, the diagnosis is then made in the presence chronic pulmonary disease, pancreatic insufficiency and a family history of cystic fibrosis.

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