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.
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.
Antenatal (with ultrasound scanning):
A multi-disciplinary approach is essential. This usually involves treatment by different sub-specialists including a Paediatric Pulmonologist, Paediatrician, Surgeon, Gastroenterologist, Physiotherapist and Dietician.