Cystic fibrosis

What is Cystic Fibrosis?

Cystic fibrosis is an inherited disease of the exocrine glands affecting primarily the gastrointestinal and respiratory systems. It leads to chronic lung disease, exocrine pancreatic insufficiency, hepatobiliary disease, and abnormally high sweat electrolytes. The disease exists before the birth of the child and the symptoms appear in most cases immediately or shortly after birth. Persistent respiratory infections lead to chronic respiratory problems and obstructive pulmonary disease, and coexist with pancreatic dysfunction and sweat gland malfunction. The body cannot absorb the nutrients it needs and this causing diabetes, cirrhosis of the liver, osteoporosis and progressive respiratory failure, leading even in death if lung transplantation is not performed. Life expectancy is up to 50 years, approximately. Gene therapy trials up to date have not been clinically effective. The patient follows special medication, diet and physiotherapy, for life.

Why is a child born with Cystic Fibrosis?

Cystic fibrosis results when a person inherits two defective copies (mutations) of a particular gene, one from each parent. This gene is called the cystic fibrosis transmembrane conductance regulator (CFTR). Various mutations can affect the CFTR gene. When a person has only one copy of the gene, then that person is a carrier of Cystic Fibrosis. Carriers do not have Cystic Fibrosis and do not have health problems related to this disease. Only if a person carries two defective genes will he suffer from Cystic Fibrosis. When both parents are carriers, then each of their children has 25% chance of inheriting both abnormal genes, thus suffering from Cystic Fibrosis.

How common is Cystic Fibrosis?

It is estimated that in Greece 1 in 2,500 children is born with Cystic Fibrosis. Statistically, 50 patients are expected to be born each year, i.e. 1 child with Cystic Fibrosis is born each week.

Can I be a carrier of the disease?

You may be a carrier of the disease and not know it, even if you do not have a family history, or even if you have healthy children. The chance of being a carrier without having family history of Cystic Fibrosis is 1 in 25 chance. In Greece, 4-5% of the population are carriers of Cystic Fibrosis, and is possible to pass the defective gene on to your offspring without knowing it. But if a relative or family member is ill or has reported being a carrier of the disease, then you are even more likely to be a carrier.

What else do I need to know about Cystic Fibrosis?

In the last 20 years, after a detailed analysis of the gene in the DNA of patients with Cystic Fibrosis, more than 1,500 mutations have been detected, the incidence of which varies geographically and demographically. The variety of gene mutations leads to a variety of symptoms. Although the most common mutation in the Greek population is ΔF508 at a rate of 53.7%, however, controlling only this mutation does not significantly reduce the risk of being a carrier of Cystic Fibrosis.