Cystic Fibrosis

Cystic Fibrosis

Cystic Fibrosis (CF) is an inherited genetic condition in which a buildup of thick, sticky mucus can damage various organs of the respiratory and digestive systems. The severity of the disease and range of symptoms vary in individuals diagnosed with CF.

How Common Is CF in India?

Lack of community-based studies in India makes it difficult to estimate the exact prevalence of CF. The estimated prevalence from studies on immigrant populations in Western countries is between 1 in 10,000 to 1 in 40,000 children. However, available data indicate the presence of some common genetic changes in the North Indian population, making CF more common than previously known. Many children may be dying due to severe pneumonia or malnutrition before being accurately diagnosed with CF.

Health Complications Associated with CF

• Lungs — abnormally sticky mucus can clog airways, making it difficult to breathe. Individuals with CF are more prone to recurrent bacterial infections, chronic coughing, wheezing, and inflammation. Recurrent infections can cause permanent lung damage

• Digestive system — mucus buildup in the pancreas can reduce the production of insulin and digestive enzymes, leading to poor growth due to malnutrition and diarrhoea. About 15–20% of babies with CF may have meconium ileus at birth

• Male infertility — congenital absence of the vas deferens (CAVD) means sperm are not transported efficiently; many men can father a child with the help of reproductive technologies such as ICSI

Genetics of CF

CF is caused by mutations in the CFTR gene and is inherited in an autosomal recessive pattern — meaning both parents must be carriers for a child to be affected. Carriers typically have no symptoms. When both parents are carriers, their children have a 25% chance of having CF, a 50% chance of being a carrier, and a 25% chance of being unaffected.

The Role of Genetic Counselling

Genetic counselling can help families understand the genetic basis of CF, the implications for other family members, and the options available — including carrier screening, prenatal diagnosis, and preimplantation genetic testing (PGT). Early diagnosis opens opportunities for better management and improved quality of life.