Pathophysiology a.k.a WHAT EXACTLY IS GOING ON HERE?!

Here is a very nicely put overview of the progression of the disease before we get into specifics..

https://www.youtube.com/watch?v=tWWpPAXFEFs


Another summary of what she is talking about.. Pathophysiology.

First...

CF begins with a gene mutation

1. A GENE MUTATION: a mistake in the DNA leading to a change in some protein
• the gene: CFTR gene: cystic fibrosis transmembrane conductance regulator protein
• What does CFTR do?
• this protein acts as a tunnel or channel which transports Na+ and Cl- across cell membranes
• proper transport of Na+ and Cl- is necessary for movement of water into and out of cells
• this channel is located in several areas of the body affecting the lungs, pancreas, liver, intestines and skin
• there are 1900 different ways this gene can change that causes CF
2. THE PROBLEM
• without proper movement of sodium, chloride and water SECRETIONS or MUCUS becomes VERY THICK and STICKY 
• this mucus is stuff that sometimes comes out of your nose when you cough or sneeze
• because it is very thick, it is difficult to push out of your lungs
• SEE LUNGS with CF in action!

Further complications:

1. Bacteria LOVE thick, sticky mucus and get trapped in CF lungs causing infection
2. LUNGS: Airways can be blocked by sticky mucus making it difficult to breathe!



Image from WebMD

3. Other passageways can be BLOCKED!

• PANCREAS: 
• provides enzymes to breakdown food and insulin to help regulate sugar in the blood
• BLOCKED pancreas: results in diabetes and problems digesting food
• LIVER: provides bile to breakdown food
• BLOCKED liver: problems in digesting food
• INTESTINES: help absorb nutrients from food
• BLOCKED intestines: do not get enough nutrients, intestines can become distended or obstructed (looks like a big belly!)

4. Sweating!

• when we sweat, water and Na and Cl are brought to the surface of their skin
• this Na and Cl remains on the skin and are not reabsorbed in a typical CF patient
• skin can taste SALTY!
• its important to reduce the amount of sweat produced and keep salt in the body by drinking fluids with electrolytes, like Pedialyte or Gatorade!

Due to the progression of the disease, people with CF:

• must EAT LOTS OF FOOD but gain very little weight
• must get treatments to break up the mucus in their lungs since they cannot cough it up themselves
• often get DIABETES and manage by monitoring blood sugars and taking insulin

References:

Katkin, J. (2014, September 2). Cystic fibrosis: Genetics and pathogenesis. Retrieved January 30, 2015, from http://www.uptodate.com/contents/cystic-fibrosis-genetics-and-pathogenesis?source=search_result&search=pathophysiology Cystic Fibrosis&selectedTitle=1~150#H14

CFTR gene. (2015, January 27). Retrieved January 30, 2015, from http://ghr.nlm.nih.gov/gene/CFTR