Psychosocial Issues in Cystic Fibrosis

Psychosocial Issues In Cystic Fibrosis, Part 1Susan Horky, LCSWUniversity of FloridaPediatric Pulmonary Center

1Today, were going to be talking about psychosocial issues in cystic fibrosisWell be talking about:What cystic fibrosis is

How families feelAt the time of diagnosisOver time

2First, well briefly look at what cystic fibrosis is. Then well discuss how families feel at the time of diagnosis and chronically, over time.

Periodically I will pause in order for you to look at another resource, or to ask you to reflect on a particular question before I move on.What is CF? Cystic Fibrosisis a life-shortening chronic illness...http://www.medicalnewstoday.com/articles/147960.php(Then scroll down)

3So, the first question is, what is CF? Its a life-shortening chronic illness. Do you know anything else about CF? If so, try and verbalize it now, either by yourself or as a group. Then go to the next slide.That is genetically based

CF is genetically based. It is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, and are called carriers. They typically do not show signs and symptoms of the condition. If two carriers have a child, there is a 1-in-4 chance the child will have CF, a 1-in-4 chance that the child will not be affected at all, and a 2-in-4 or 50% chance that the child will be a carrier. The outcome depends on whether the child gets only unaffected genes from each parent (so the child is healthy), only affected genes from each parent (so the child has CF0 or one affected and one unaffected gene from each parent (in which case the child is a carrier.

CF is the most common inherited illness affecting Caucasians. CF occurs in 1 in 3700 Caucasian newborns, and is less common in African Americans and Asian Americans. Approximately 30,000.00 people in the US have CF and approximately 1000 newborns are diagnosed each year.4An abnormal gene causes problems in the transport of sodium and chlorideacross cell membranes

Because salt cant cross into the airway lining, waterdoesnt follow, leading to thick, sticky mucus

5The major problem in CF is that the mucus of a person with CF is much thicker and stickier than that of a healthy person. As a result, the mucus becomes an ideal host for growing bacteria, which lead to infections. A healthy person coughs or clears his or her throat without even noticing it, and bacteria are moved up and out of the airway, but in CF, the mucus is so thick that the bacteria often remain, and grow, in the lungs.

This slide shows, in simplified form, the basic problem that causes the thick mucus. This problem has to do with a blocked chloride channel in the cell. These drawings depict cells that might line the airways. The left hand picture shows a healthy cell. Chloride is able to leave the cell and enter the airway. It is joined by sodium, making salt. As you know, where ever salt goes, it pulls water with it. So water follows the sodium and chloride into the airway. This makes the mucus thinner, more waterier. On the right is a CF cell. The channel through which the chloride would exit the cell is blocked. Therefore, chloride does not make it into the airways, so there is no sodium/chloride combination to pull water into the airways. Thus, the mucus is thick.

CFTR (Cystic Fibrosis Transmembrane conductance Regulator) is a protein that creates a chloride channel

Chloride flows out of the cell through the center of the channel and water follows behind it

The water keeps mucus thin so it can move out of the lungs.

The genetic defect results from problems with CFTR

Underneath this problem with sodium transport is a problem with CFTR (Cystic Fibrosis Transmembrane conductance Regulator) a protein that creates the chloride channel.

This picture again shows the cells lining the airways. The pink objects are the CFTR. In the lefthand part of the picture, the CFTR is where it is supposed to be and it is correctly creating the chloride channel. On the right hand, the CFTR isnt working properly, so no chloride channel is open. Therefore salt (and, following it, water) cannot exit the cell and get into the airway. So the mucus becomes thick and sticky.6CFTR Function

Non-CFCF

This is another picture showing the same problem. On the left, the CFTR works properly, on the right it does not.7Categories of Defect in CFTRClass I-Nonsense gene, Insufficient CFTR made

Class II-Folding problem, CFTR cant get to cell surface

Class III- Gating problem, CFTR gets to cell surface but is largely inactive

Class IV-CFTR Gating problem CFTR gets to cell surface but works inadequately

Class V- Trafficking problem: Not enough CFTR gets to cell surface

Class VI-CFTR pulls away from surface; not enough left

Early on, researchers assumed that there was just one problem causing the CFTR to work incorrectly. They now realize that there are several types of problems causing CFTR to work incorrectly. These have been categorized into different classes of problem. There are over 1800 known mutations of the CF gene, and each mutation can be placed in one of these classes. As indicated on the slide, the classes are:

Class I-Nonsense gene, Insufficient CFTR made and the CFTR never gets to the cell surface

Class II-Folding problem, CFTR is made but cant get to cell surface

Class III- Gating problem, CFTR gets to cell surface but is largely inactive

Class IV-CFTR Gating problem CFTR gets to cell surface but works inadequately

Class V- Trafficking problem: Not enough CFTR gets to cell surface so cant function there

Class VI-CFTR pulls away from surface; not enough left to function

8http://aotc-insidecftr.org/index.htmlWatch Inside CFTR and the 3D animation

Now, please go to this link. Please watch the session on Inside CFTR and also the 3D animantion.9