Cystic fibrosis: a deadly disease of children

Cystic fibrosis (CF) is a hereditary deadly disease affecting mainly the lungs. It is an inborn disease and the chance is more in children when the parents are cousins.

The disease mainly affects the exocrine glands of the body. Due to mutation of the Cystic fibrosis transmembrane conductance regulator (CFTR) gene, chloride ion secretion is reduced and there occurs increased reabsorption of sodium ion and water resulting the thick secretion in the gland. When the secretion is infected by micro-organisms like Pseudomonas, the infection is life long and the lungs are damaged gradually.

The other organs affected are the pancreas, intestine and liver. Initially, the small children suffer from bronchiolitis followed by repeated pneumonia and later on bronchiectasis (dilatation of the bronchus) and finally respiratory failure. The children with CF are also likely to suffer from recurrent diarrhoea, bulky stool, malabsorption and ultimate severe malnutrition.

When suspected, the disease can be diagnosed by examining the sweat and increased level of sweat chloride ion confirms the diagnosis. In the developed country, the life span of a person with CF is about 37 years with good management.

We the child chest specialists in Bangladesh are facing quite infrequently CF in our clinical practice. Recurrent respiratory distress, very poor weight gain and occasional diarrhoea are the main presenting features. We then suggest chest x-ray or CT scan to look for bronchiectasis. The final diagnosis is done by doing sweat test.

Our experience is that the children are suffering from the disease very early in the first 12-18 months of age but the diagnosis is delayed until 7-8 years of life because of unawareness of our physicians about the existence of CF in our children. By this time, the damage of the lungs is well advanced. The parents move from one doctor to another with a lot of harassment.

The disease is treated with clearing of the chest in special ways by using chest physiotherapy and mucolytics, antibiotics, replacement of pancreatic enzymes, vitamins, calcium and others.

The child needs high energy diet with supplemental fats. The child has to be followed up frequently by the child chest specialists. Early diagnosis and effective treatment can save the children and their parents from unnecessary sufferings.

Prof Dr ARM Luthful Kabir is a Professor of Paediatrics and Dr Sudipta Roy is an Assistant Professor of Paediatrics both at Ad-din Women's Medical College, Dhaka.