Cystic Fibrosis [CF] is a genetic disorder. It primarily affects the digestive and respiratory systems of those who have it. CF develops because of a defective gene that is on Chromosome 7 and it stops salt moving in and out of cells effectively. The result is an increased production of mucus and this clogs the airways and digestive systems.
It’s Recessive
In order for CF to be passed down to a child, both the mother and the father must be carriers of the faulty gene. If a child receives just one copy of the gene that is faulty during development, then they will become a carrier, but not be affected by the disorder.
What Can Happen?
If both parents are carriers, then the best chance is for a child to become a carrier. There is just as much of a chance that a child will be born without a faulty gene copy as there is that they will be diagnosed with CF.
Salty Is an Understatement
Because CF affects the transport of salts within the human body, people who have this disorder tend to have salty sweat. It can be up to 5x saltier than regular human sweat and is a strong indicator of the presence of the disorder.
Many Variations
In people with CF, there have been over 1,000 different mutations that have been documented. The most common mutation, however, is a deletion of a DNA sequence that creates an absence of a single amino acid. This happens in 70% of total cases.
Is CF a Good Thing?
If you are a carrier of the CF gene mutation that can be passed down to children, then you are likely immune to certain diseases that are infections. This includes cholera, tuberculosis, and even typhoid fever. This trait isn’t guaranteed in carriers, but it does tend to be found in those who have the disease when it affects the lungs.
You’re Born With It
CF is not a disease that you can catch from someone else as an adult. It is something with which you are born because both parents have a copy of the faulty gene. If just one parent of the two is a carrier, then CF will not develop in any of the children.
It Can Be Found
After the gene for CF was discovered in 1989, testing was developed to determine if someone is a carrier for the gene. It’s usually only offered to people who have a history in the family of CF, but genetic counseling may be requested in some specific instances. CF can also be diagnosed through testing before a baby is born.
Are There Other Dangers?
Some babies who are born with CF can become sick with a bowel obstruction from meconium, which is part of the waste materials of nutrient absorption as a fetus. Others may have blockages of liver ducts and reproductive health may be affected as well. Steroids are often used to treat breathing issues, so osteoporosis is also a major health concern as patients get older.