Cystic Fibrosis

What is "cystic fibrosis"?

Cystic fibrosis is a genetic disorder that is one of the most common ones that we see in children. It's a recessive disorder, which means that it has to be transmitted by both parents having a defective gene that will impact itself into the child. They will then develop cystic fibrosis, which is a disorder of not only the lungs, but also the GI tract. Patients will have persistent bronchitis, pneumonia. But also, they aren't able to absorb their food as well, so they'll be small in stature and they will be underweight. They'll have a very difficult time with nutrition, too.

Who is most often affected by cystic fibrosis?

The group that's most affected by cystic fibrosis is of course children. Up until about 5 to 10 years ago, we didn't have good systems for managing children so they very frequently died before they reached adulthood. Now as an adult Pulmonologist I'm seeing more and more of the pediatric group living longer and longer because we have improved ways of treating it.

What are the most common symptoms of cystic fibrosis?

Cystic fibrosis will be seen in patients who have cough. They'll have a lot of bronchicis; they'll have difficulty with their breathing. They'll be small in statue, they'll be, they'll be underweight. They'll have diarrhea; they'll have GI problems that are quite specific for cystic fibrosis. And given the combination of this lung problem and with the gastro intestinal problems combined is a important tip off that this person has cystic fibrosis.

What causes cystic fibrosis?

Cystic fibrosis occurs when a man and woman will have a child that inherits the cystic fibrosis gene from them. Now, it has to be that one parent has this defect in their genes and the other parent has the defect, and then the combination, if a child inherits both of these genes, then twenty-five per cent of the time they will do that, then they will have cystic fibrosis. If they get just one of the genes, then they'll be a carrier and they, too, go out into the population and probably will never marry or have children with someone who has that same defect on their gene. But then, there's the possibility that the child will get neither of those genes from their parents, so then in that case twenty-five per cent of the offspring from this couple won't get cystic fibrosis. Twenty-five per cent will, fifty per cent a carrier, and twenty-five per cent don't have any problems whatsoever, they won't have the gene at all.

How is cystic fibrosis diagnosed?

Cystic fibrosis is diagnosed by having a child who has the symptomatology that would be part of cystic fibrosis; that is, a cough, sputum production, difficulty breathing, plus the fact that they have GI complaints - they don't absorb their food properly, they're malnourished, small in stature, underweight. So then you take them to the pediatrician and he will order up a sweat chloride test and the sweat chloride test then is performed in order to see if their sweat has high levels of sodium chloride in it, which cystic fibrotic patients do, or if it's below the cutoff point.

What is a "sweat test"?

Sweat test is a methodology for diagnosing cystic fibrosis. Children with cystic fibrosis will have a lot of sodium chloride in their sweat and so that when you put these little patches, these little electrodes, on their skin, you'll be able to detect a higher than normal amount of chloride. As you recall, salt is made up of sodium and chloride. So that when we test for just the chloride atom, and in that case if it's really high, then you know that the person has cystic fibrosis. If it's forty nanomiles I think per liter, then if it's below that, then they do not have cystic fibrosis. So the sweat test is one of the ways to confirm your suspicion that this child may or may not have cystic fibrosis.

Is cystic fibrosis fatal?

Cystic fibrosis can be fatal. For many years, it was difficult to take care of these patients because you would get attached to these patients, knowing full well that before they reached their twenties, got out of their teenage years, they would succumb to the disease. And now we're finding that we can keep people alive longer and longer with our improved antibiotics, our improved techniques. It certainly will, for the most part, shorten a patient's life. But we're always optimistic that we can get one more decade out of this patient and we can work hard with them and get them through another year, another period of bronchitis and attacks and the rest.

How is cystic fibrosis treated?

Cystic fibrosis is treated by giving the patient enzymes, usually pancreatic enzymes, to help with their absorption problems, plus appropriate antibiotics. You have to aim your antibiotics directly at whatever organism is causing the infection, and there are certain organisms, certain bacteria that reoccur within the lungs of patients with cystic fibrosis, and you have to be careful that those organisms don't develop a resistance against the antibiotic that you're using. We have a wider range of antibiotics available now than we did 10 years ago, and certainly wider than 20 years ago. So when the resistance is encountered we can switch to another antibiotic. But then there are certain lifestyle issues that the patient has to deal with. Different processes of clearing the mucus that can be quite thick and quite copious. Clearing that mucous is a daily activity that this patient has to adopt. Many times there is resistance to that, especially in teenage years, we all recall our rebellion against anything! There is that problem with cystic fibrosis, but usually you can work with the child and they'll understand and develop a level of maturity so they say to themself, "Yes I've got to do this." If depression sets in you should treat that. But once again, our techniques have become a lot better than they were decades ago.

Can a lung transplant cure cystic fibrosis?

A lung transplant can not cure cystic fibrosis. We've not developed good enough treatment transplant programs yet that will be able to achieve that, basically since it's an inborn error, that just putting in a new set of lungs.

Can gene therapy cure cystic fibrosis?

Gene therapy has not been developed to the point where it can be used in the treatment of cystic fibrosis at this point.

How does cystic fibrosis impact daily life?

Cystic fibrosis sufferers have to constantly be on the alert for infection, and be very careful with their diet. They have to avail themselves on a daily basis of lung drainage techniques to get this thick, copious mucus out, because if it sits in the lung and stays there without being moved out, it can block the lung. Since it's infected, it will then cause accelerating forms of bronchitis and pneumonia. So they have to make themselves available to this activity almost like an exercise every day. They have to eat differently. They have to be more careful of their associations and what they do in order to avoid developing new infections.