Cuban scientists from its Center for Immunoassay have found a more cost-effective alternative to easily diagnose carriers. They have developed a monoclonal antibody (MAB) for cystic fibrosis, a protein that reacts exclusively to one antigen, indicating its presence and thus the presence of the disease.
Currently, testing can be performed in two ways: a blood test from a heel prick and a sweat test. The blood tests checks for the presence of immuno-reactive trypsinogen, which is then confirmed by high levels of salt in sweat. Carrier testing, or pre-implementation genetic diagnosis, is recommended to avoid passing on the condition to children. But this is expensive, costing MX$30,000- MX$70,000 in Mexico. Some countries perform widespread neonatal testing to diagnose cystic fibrosis and avoid some of the more serious complications.
Two genes are required for cystic fibrosis to be activated. Only one gene makes a person a carrier. Should both parents of a child be carriers, any baby would have a 25 percent chance of inheriting the condition, a 50 percent chance of becoming a carrier and a 25 percent chance of being disease free. Two genes are needed for the condition to be present, but many are unknowing carriers.
Cystic fibrosis is an inherited condition that impacts a certain gene that controls the movement of salt and water in cells. This causes a build-up of mucus in the lungs and digestive system, among other organs, that causes health issues. The build-up of mucus in the lungs leaves a person susceptible to infection and over time it causes decreased lung function. A blocked pancreas stops the enzymes that break down food from reaching the stomach, requiring medication to help digest food. In addition, sufferers present a risk of cross-infection, meaning that two cystic fibrosis patients should not meet. September 8 is World Cystic Fibrosis Day.
In Mexico, around 350 children are born with cystic fibrosis every year, or one of every 8,500 births, compared to one in 25,000 in the UK for example. Only around 15 percent of Mexican cases are diagnosed, most die before the age of 4 following respiratory infections and malnutrition. The average lifespan for a sufferer in Mexico is 17, compared to 47 in developed countries.