Cystic Fibrosis (CF), also known as Mucoviscidosis (from “viscid mucus” due to the thick and adhesive secretions), is an inherited genetic disease characterized by the presence of dense and sticky mucus that tends to obstruct airways and pancreatic and biliary ducts, with progressive damage of the organs involved – bronchus, lungs, pancreas , liver, intestines.
Whereas in a normal situation the mucus is a viscous substance that lubricates and protects body tissues, in individuals with cystic fibrosis secretions have little water, are particularly thick and don’t move easily: the accumulation of secretions facilitates bacterial infections and leads to respiratory complications.
Stagnant secretions form cysts in the pancreas: the surrounding tissue becomes inflamed, hardened and fibrous, hence the name cystic fibrosis.
Cystic Fibrosis is a genetic disorder caused by two mutations of the CFTR gene (Cystic Fibrosis Transmembrane Regulator) that regulates the exchange of sodium, chloride and water across cell membranes.
Cystic fibrosis is autosomal recessive type of inherited disease:
- Autosomal: the CFTR gene is on chromosome 7, which is part of the “autosomes” (i.e. chromosomes from 1 to 22)
- Recessive: the disease occurs when a person carries two malfunctioning copies of the CFTR gene, while it “recedes” and is not expressed when only one of the two CFTR genes contains a mutation and the other gene is normal.
- Respiratory impairment due to increased mucus density:
- Persistent coughing, with phlegm and sometimes blood
- Frequent lung infections, bronchitis and recurrent bronchopneumonia
- Difficulty in breathing; wheezing or shortness of breath (chronic pulmonary disease)
- In the long run the accumulation of secretions and infections cause permanent damage to the lungs, formation of scar tissue (fibrosis) and expansions in the shape of a bag (cysts).
- Digestive Disorders arising from the pancreatic failure:
- Malabsorption syndrome
- Stunted growth
- Poor digestion, frequent and greasy stools, gas and constipation
- Male Infertility
- “Salty” taste of the skin due to the greatly elevated concentration of salt in the sweat (4-5 times higher than average)
Cures and Therapy
Although Cystic Fibrosis has no cure yet, the existing integrated programs of treatment allow to fight the development of the disease by controlling lung infections, providing adequate nutrition and preventing intestinal obstruction.
The therapy aimed at countering the evolution of the disease is mainly based on:
- Daily physiotherapy and respiratory rehabilitation in order to loosen and remove the thick, sticky mucus from the lungs. The choice of the preferred secretion removal method is based on the patient’s age and respiratory conditions.
- Nutrition: a balanced hypercaloric diet integrated by oral pancreatic enzymes and vitamins supplements
- Surgical treatment of complications