Cystic fibrosis (CF) is a genetic condition that primarily involves the respiratory system causing recurrent pneumonia that are difficult to treat. It also affects the pancreas and decrease the secretion of enzymes that are responsible for digestion of fats. The severity of the disease differs according to the type of genetic mutation and thus diagnosis is challenging.

What causes cystic fibrosis?

Cystic fibrosis is a genetic disorder in which a mutation occurs in the CFTR gene. This CFTR gene is responsible for transport of water and electrolytes in several cells of the body. The CF gene runs in families. It can occur in a child when both the parents carry atleast 1 CF gene and they may or may not be affected by it. In case of a family history of CF, genetic analysis and antenatal diagnosis can be offered to parents. Newborn screening for CF also helps in early diagnosis and timely management of CF.

My child has CF, why does he have recurrent pneumonia?

Lungs have a way of clearing its secretions with the help of cells called cilia that move in one direction and push the secretions out of the airways. In patients with CF, these cilia are immotile thus, the respiratory secretions get accumulated in the airway and are difficult to remove. These respiratory secretions are also thicker than that of a normal individual. As a result, these thick secretions accumulate and block the airway causing pneumonias. These secretions also act as a petridish for growth of other microorganisms that cause pneumonia.

How does cystic fibrosis affect growth of a child?

Due to the mutation in the CFTR gene, the pancreatic enzymes that are mainly responsible for digestion of fats are absent. These children have fat malabsorption and thus fats and other fat-soluble vitamins do not get absorbed in the body. These nutrients are excreted out and make the stool pasty, foul-smelling that float on water. Therefore, children with cystic fibrosis have poor weight gain and malnutrition, vitamin D deficiency, vitamin A deficiency and other nutrient deficiency.

When do we suspect cystic fibrosis in a child?

All of the following are typical features of a child suffering from cystic fibrosis:

• Recurrent pneumonias
• Poor weight gain
• Diarrhea or pasty foul-smelling stools
• Extreme dehydration unexplained by the severity of diarrhea
• Salty skin to taste
• Vitamin deficiencies
• History of meconium ileus at birth
• Family history of early deaths due to pneumonia
• Family history of cystic fibrosis

How do we diagnose cystic fibrosis?

Sweat chloride test is a good diagnostic test highly specific for diagnosis of CF. The salt content in your child’s sweat is measured in this test. Genetic testing for delF208 gene and other CFTR genes is now available to confirm the diagnosis of CF. More than 1900 genes have been identified to cause CF, however not all genes can be tested.

Low stool fecal elastase, high stool fat content are markers of pancreatic insufficiency that also indicate CF. Newborn screening for CF can be done by measuring the immunoreactive trypsinogen levels in the first few days of life.

How do we manage kids with cystic fibrosis?

Cystic fibrosis is a multi-system disorder and needs specialized, multi-dimensional care. Preventing recurrent pneumonias, treating pneumonias, effective airway clearing, monitoring lung function involving a pulmonologist, a respiratory physical therapist is of utmost importance.

A gastroenterologist, and dietician looks after the diet plan, monitor growth of the child and provide enzyme therapy. Pancreatic enzymes are given to the child before every meal to increase fat absorption from the meals.

Chest Physiotherapy is very important for better lung function, airway clearance.

Role of a pulmonologist: A pulmonologist is the central person who manages all the teams involved in managing the child with cystic fibrosis. Treatment of pneumonia and repeated sputum testing for presence of any bacteria that may cause pneumonia, need of inhaled antibiotics are decided by a pulmonologist. Chest physiotherapy for airway clearance and different inhaled medicines for airway clearance are given and explained by the pulmonologist and respiratory therapist. They also monitor the growth and functioning of the lungs and monitor disease progression in the lungs.