Simply CF : The Cause of It All
Cystic Fibrosis is a complex and sometimes confusing disease.
Each installment of Breathe 3-65 called,"Simply CF" will strive to explain the complexities of CF in a concise and accessible way.
For many decades parents noticed a distinct salty taste left upon their lips when kissing their child's skin. Today, we know that salty skin is a prominent characteristic of CF and is a result of the defective CF gene. That salty skin is only a small glimpse, however, into a systemic imbalance with life-altering implications hidden within every cell.
So what exactly causes people with cystic fibrosis to be so salty and what complications arise from such saltiness? Well, it’s the very cause of cystic fibrosis itself:
The Cause Of It All
Cystic Fibrosis is caused by a genetic mutation of the gene that is responsible for creating the CFTR protein. Two copies of the faulty gene must be present for a person to have cystic fibrosis. The CFTR protein is an important protein that transports salt into and out of our body’s cells. As salt moves in and out of cells, so do water molecules.
In CF, the defective CFTR proteins disrupt the important salt regulation and transportation of it into and out of the body’s cells, resulting in a salt and water imbalance on the lining of organs such as the bowel, pancreas, and lungs. In a person with normal CFTR proteins, as salt moves out of cells, so does water and the body is able to thin and move mucus on the linings of these organs in a normal manner. But in a person with CF, the imbalance of salt results in too little water causing a buildup of thick and sticky mucus in the body. The sticky mucus and the inability to clear it causes reoccurring respiratory infections and other systemic complications throughout the body. (More information to come on CF’s systemic effects in future Simply CF posts).
Salty skin and sticky mucus. They go hand in hand and are the underlying results of the defective gene and faulted CFTR protein that cause cystic fibrosis. So what if the CFTR protein in a person with CF could be corrected or restored to a more normal state? It could be life changing. Kalydeco® and Orkambi® are two medications available in the US that help restore CFTR protein function. These treatments are approved for patients with specific mutations and are not a cure but significantly improve health. Further research and treatment development are underway to correct the defective CFTR protein.
Want to learn more about the CF gene and how someone is born with CF? Read “A Common Carrier” – a previous post about CF genetics.