Cystic Fibrosis in Children

Cystic fibrosis is one of the more common genetic diseases in South Africa. Cystic fibrosis is found in all of South Africa’s diverse population groups. While incurable at present, its symptoms are amenable to good control when it is diagnosed early and managed appropriately.

Causes of cystic fibrosis:

It is caused by the inheritance of at least two mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The problem is that the body’s secretions become sticky. It can occur in the newborn with obstruction of the bowel by sticky secretions leading to delay in the passage of stool, vomiting and abdominal distention leading to meconium plug syndrome. The sticky secretions can occur in the lung as well leading to recurrent chest infections.

In the pancreas the secretions can block the pancreatic duct leading to destruction of the pancreatic enzymes and malabsorption of food

Symptoms of cystic fibrosis

Antenatal (with ultrasound scanning):

  • Thickened bowel wall (echogenic bowel)

New Born:

  • Meconium ileus.

Infant and child:

  • Recurrent chest infections or wheeze.
  • Persistent chest symptoms.
  • Pneumonia with slow response to antibiotics.
  • Severe bronchiolitis.
  • Pseudomonas chest infection.
  • Uncontrolled asthma.
  • Anaemia, oedema and rash in infancy.
  • Chronic diarrhoea.
  • Salty tasting skin.

Treatment of cystic fibrosis

A multi-disciplinary approach is essential. This usually involves treatment by different sub-specialists including a Paediatric Pulmonologist, Paediatrician, Surgeon, Gastroenterologist, Physiotherapist and Dietician.

Treatment involves the following:

  • Use of enzyme replacement therapy with every meal.
  • Daily physiotherapy to help clear secretions.
  • Special diets/vitamins to optimize growth.
  • Antibiotics to treat acute infections.
  • Nebulization at home to keep chest clear.

Contact Dr Riaz Khan's Practice to make an appointment.