670Bronchiectasis- Cystic Fibrosis

Here we have one of the three most lethal
genetic diseases in the caucasian population in the US Welcome to Cystic Fibrosis The other two being alpha-1 antitrypsin deficiency and Down’s Syndrome In cystic fibrosis remember it is inherited, autosomal recessive mutation being in the cystic fibrosis transmembrane regulatory protein or gene which is a chloride channel Remember,the chromosome by chance form biochemistry or genetics? Good, chromosome 7. In the specific was Phe508 That at least you must know Now before I move on, we’ll predict as to
what we can find in our patient just like we would do any case, draw up a prediction, right? So normally speaking, remind me if it’s in sweat That CFTR or chloride channel does it absorb or does it secrete? It normally is going to absorb, isn’t it? Let’s talk about that one first So normally, if that channel is to absorb
and now the chloride channel is dysfunctional Now you taste your infant… no I’m joking
don’t do that, that’s kinda creepy but you’re definitely going to do a sweat chloride test So therefore, you’d expect there to be an increase in chloride concentration up to as much as or greater than 60mEq per liter And that takes care of the sweat chloride test,
correct? Now remind me what may then happen in your ducts and by ducts, referring to bronchioles and
maybe the pancreatic When your duct.. what you end up happening what’s supposed to do in your duct is the chloride channels are supposed to secrete chloride What’s secrete mean? It’s supposed to go into the duct, right? So now that the channel’s no longer working for chloride it remains behind in your cell Now, chloride is an anion It cannot live by itself ever It has to maintain a neutrality, that is how
our body’s built Obviously chloride is an anion its neutralizer would then have to
be what, please? Sodium So now sodium hurriedly comes out of the duct and comes into the cell to then accompany that lonely chloride And there you have it, sodium comes in but sodium doesn’t also come in by itself does it? along with it would be water as well Now let us read this statement Suspect a newborn child with hyponatremic dehydration unless sodium is leaving But the sweat chloride test would be high failure to thrive, of course or an adult with sinus disease, and why would there be bronchiectasis? Remember, you’d have bronchiectasis in your lungs because the secretions or the viscosity in your duct is very very thick now You may then resut in chronic bronchitis and eventually may result in bronchiectasis In addition, the same type of issue or in
a male especially may result in infertility Whereas in a female it might be subfertility in which the lady would have amenorrhea Now that we took care of the lungs,
let’s take a look at the pancreatic duct Now please picture the pancreatic duct for me
please Coming out of the head and you’re moving towards your second part of duodenum, correct? to the ampulla of vater or now the duct becomes extremely thick and viscous things are gonna back up and you’re gonna end up developing acute pancreatitis in perhaps a child How would you know? Well the child is now grasping to the stomach and maybe perhaps grasping to the back, right because of radiation to the back Now that you lose pancreatic function in this child, you’re gonna result to malabsorption aren’t you? And by malabsorption, referring to the fact that well I’m gonna have statorrhea because I can’t take in my fat If I can’t take in my fat then I’ll also lose
the ability to absorb fat-soluble vitamins ADEK – (Vitamins) A, D, E, K So what would be nice in terms of management what’re you gonna do? Why not take care of the lungs? Take care of the lungs by giving, well maybe beta-2 agonism to open them up There’s malabsorption so why not give pancreatic enzymes so that you can increase the absorptive rate of fat And so that you can take up the middle chain fatty acids and such So bronchiectasis is
something that you wanna treat the pancreatic insufficiency is something that you wanna
treat and with high fat diet in replacement enzymes Remember without the pancreatic enzyme, this would no longer work right? The management This is really important for cystic fibrosis Next, well if you have such inflammation taking place at some point in time, these bronchioles start getting damaged So obstructive diseases in which the bronchioles the small airways start undergoing obstruction it’s what you’re worried about Classic etiology, for example, if you have
a child One of the most common causes of viral pneumonia in children in fact is RSV- Respiratory Syncytial Virus and it will be in winter months perhaps in closed quarters and daycare centers where all the children are running around and in a close encounter with one another Not usually to hear squeaks on pulmo exam with wheezing so you might find that quite often Non-infectious etiologies as well, bronchiolitis obliterans we talked about that in conditions where you have increased fibrosis deposition The last time we looked at such a condition was dealing with chronic bronchitis in which there is increased deposition of fibrosis resulting to loss of your bronchioles Other times we will also take a look at this is going to be in issues such as what is called as hypersensitivity pneumonitis so these are going to be issues in which there’s going to be a fibrotic peribronchiole type of bronchiolitis resulting in bronchiolitis obliterans It could also be seen with rheumatoid artritis as well immune destruction autoimmune specifically

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