pompe disease - USMLE Forums
USMLE Forums Logo
USMLE Forums         Your Reliable USMLE Online Community     Members     Posts
Home
USMLE Articles
USMLE News
USMLE Polls
USMLE Books
USMLE Apps
Go Back   USMLE Forums > USMLE Step 1 Forum

USMLE Step 1 Forum USMLE Step 1 Discussion Forum: Let's talk about anything related to USMLE Step 1 exam


Reply
 
Thread Tools Search this Thread Display Modes
  #1  
Old 08-25-2011
USMLE Forums Addict
 
Steps History: ---
Posts: 191
Threads: 69
Thanked 149 Times in 75 Posts
Reputation: 159
Help pompe disease

In pompe disease what is the pathophysiology causing cardiomegaly? there is alfa 1,4 glucosidase deficiency and accumulation of glycogen in lysosomes so how this develope to cause muscle weakness and cardiomegaly ?!!
Reply With Quote Quick reply to this message
The above post was thanked by:
signet_ring (01-16-2016)



  #2  
Old 08-25-2011
USMLE Forums Veteran
 
Steps History: Not yet
Posts: 296
Threads: 41
Thanked 167 Times in 102 Posts
Reputation: 177
Default well i'm not sure but will try to explain

like you said there is lysosomal alpha 1,4-glucosidase deficiency. why does this disease preferentially affect the heart muscles i don't know but accumulation of glycogen in any cell ought to cause accumulation of water, and disruption of the cell structure. so glycogen accumulates in the heart muscles. once the heart is diseased the patient will have fatigue.
i know i haven't answered your question but i just thought to try!


Quote:
Originally Posted by menatallah Elgohary View Post
In pompe disease what is the pathophysiology causing cardiomegaly? there is alfa 1,4 glucosidase deficiency and accumulation of glycogen in lysosomes so how this develope to cause muscle weakness and cardiomegaly ?!!
Reply With Quote Quick reply to this message
The above post was thanked by:
menatallah Elgohary (08-25-2011), signet_ring (01-16-2016)
  #3  
Old 08-25-2011
USMLE Forums Master
 
Steps History: Step 1 Only
Posts: 566
Threads: 25
Thanked 522 Times in 263 Posts
Reputation: 532
Default

Pompe Disease

"The glycogen that enters into the lysosomes is not broken down, but continuously builds up and disrupts the normal functions of the lysosome. This means that in Pompe disease (Type II GSD disease), where there is no enzyme to break down the glycogen in the lysosomes, that the lysosomes in the heart (also known as cardiac muscle) and other muscles quickly accumulate large deposits of glycogen. Over time these large deposits of glycogen cause the lysosomes to grow larger and larger and eventually breakdown, thus disrupting the function of the cell and organs that the cells make up, in this case the heart and muscles.

Infants usually present during early infancy (4-8 months of age) with weakness and floppiness, are unable to hold up their heads and cannot do other motor tasks common for their age, such as rolling over. The muscles in the arms and legs look typical, but are very weak. Breathing muscles are also weak. The heart muscle thickens (cardiomyopathy) and progressively fails in its blood pumping function. Without treatment, infants with Type II GSD usually die before 12 months of age due to heart failure and respiratory weakness."

Remember it develops restrictive cardiomyopathy.

Just a few cents...
Reply With Quote Quick reply to this message
The above post was thanked by:
mayankkaushal (02-12-2013), menatallah Elgohary (08-25-2011), savleem (08-25-2011), signet_ring (01-16-2016)
  #4  
Old 08-25-2011
USMLE Forums Addict
 
Steps History: ---
Posts: 191
Threads: 69
Thanked 149 Times in 75 Posts
Reputation: 159
Smile

Quote:
Originally Posted by rulz View Post
Pompe Disease

"The glycogen that enters into the lysosomes is not broken down, but continuously builds up and disrupts the normal functions of the lysosome. This means that in Pompe disease (Type II GSD disease), where there is no enzyme to break down the glycogen in the lysosomes, that the lysosomes in the heart (also known as cardiac muscle) and other muscles quickly accumulate large deposits of glycogen. Over time these large deposits of glycogen cause the lysosomes to grow larger and larger and eventually breakdown, thus disrupting the function of the cell and organs that the cells make up, in this case the heart and muscles.

Infants usually present during early infancy (4-8 months of age) with weakness and floppiness, are unable to hold up their heads and cannot do other motor tasks common for their age, such as rolling over. The muscles in the arms and legs look typical, but are very weak. Breathing muscles are also weak. The heart muscle thickens (cardiomyopathy) and progressively fails in its blood pumping function. Without treatment, infants with Type II GSD usually die before 12 months of age due to heart failure and respiratory weakness."

Remember it develops restrictive cardiomyopathy.

Just a few cents...
thanks sooooooooooooo much u really helped me and really clear & good explanation thanks ,, but in kaplan pompe patients without treatment can life up to 2 years is that right or 12 months or it variable .. appreciate ur help so much
Reply With Quote Quick reply to this message
  #5  
Old 08-25-2011
USMLE Forums Master
 
Steps History: Step 1 Only
Posts: 566
Threads: 25
Thanked 522 Times in 263 Posts
Reputation: 532
Default

Quote:
Originally Posted by menatallah Elgohary View Post
thanks sooooooooooooo much u really helped me and really clear & good explanation thanks ,, but in kaplan pompe patients without treatment can life up to 2 years is that right or 12 months or it variable .. appreciate ur help so much
Yes, you r right. In kaplan books says 2 years. Better be safe than sorry. 2 year up to 3.

But 2+2 is not always 4. One of the case of pompe live up to 7 year with the disease. =} dont want to confuse u.
Reply With Quote Quick reply to this message
The above post was thanked by:
menatallah Elgohary (08-25-2011), signet_ring (01-16-2016)
  #6  
Old 08-25-2011
USMLE Forums Addict
 
Steps History: ---
Posts: 191
Threads: 69
Thanked 149 Times in 75 Posts
Reputation: 159
Default

Quote:
Originally Posted by rulz View Post
Yes, you r right. In kaplan books says 2 years. Better be safe than sorry. 2 year up to 3.

But 2+2 is not always 4. One of the case of pompe live up to 7 year with the disease. =} dont want to confuse u.
no u really clear my concept not confusing at all ,, i think this maybe do with the severity of the mutation
Reply With Quote Quick reply to this message
  #7  
Old 08-25-2011
USMLE Forums Master
 
Steps History: Step 1 Only
Posts: 566
Threads: 25
Thanked 522 Times in 263 Posts
Reputation: 532
Default

Glad it help. =} keep it up.
Reply With Quote Quick reply to this message
The above post was thanked by:
menatallah Elgohary (08-25-2011)



Reply

Quick Reply
Message:
Options

Register Now

In order to be able to post messages on the USMLE Forums forums, you must first register.
Please enter your desired user name, your email address and other required details in the form below.
User Name:
Password
Please enter a password for your user account. Note that passwords are case-sensitive.
Password:
Confirm Password:
Email Address
Please enter a valid email address for yourself.
Email Address:
Medical School
Choose "---" if you don't want to tell. AMG for US & Canadian medical schools. IMG for all other medical schools.
USMLE Steps History
What steps finished! Example: 1+CK+CS+3 = Passed Step 1, Step 2 CK, Step 2 CS, and Step 3.

Choose "---" if you don't want to tell.

Favorite USMLE Books
What USMLE books you really think are useful. Leave blank if you don't want to tell.
Location
Where you live. Leave blank if you don't want to tell.

Log-in

Human Verification

In order to verify that you are a human and not a spam bot, please enter the answer into the following box below based on the instructions contained in the graphic.



Thread Tools Search this Thread
Search this Thread:

Advanced Search
Display Modes


Similar Threads
Thread Thread Starter Forum Replies Last Post
PT PTT in Liver Disease? markstroke USMLE Step 1 Forum 3 08-01-2016 07:40 AM
The likelihood that he has the disease? thunderbolt USMLE Step 2 CK Forum 15 05-17-2011 10:28 AM
Pompe disease: glycogen in heart muscles? qentank USMLE Step 1 Forum 5 05-11-2011 11:01 AM
Plummer Disease ManuHarish USMLE Step 2 CK Forum 5 01-19-2011 06:41 PM
skin disease khushboo USMLE Step 1 Forum 7 05-23-2010 12:40 PM

RSS Feed
Find Us on Facebook
vBulletin Security provided by vBSecurity v2.2.2 (Pro) - vBulletin Mods & Addons Copyright © 2017 DragonByte Technologies Ltd.

USMLE® & other trade marks belong to their respective owners, read full disclaimer
USMLE Forums created under Creative Commons 3.0 License. (2009-2014)