00:01
In this lecture, I'm going to briefly review
chronic granulomatous disease.
00:07
So, chronic granulomatous disease is a defect in NADPH oxidase.
00:13
What this means is patients have an inability
to manufacture a superoxide free radical
in their neutrophils and in their macrophages.
00:23
And as we know, this is how they break things down.
00:27
So they have a reduced ability to kill bacteria through encapsulation.
00:32
As a result, these patients form granulomas.
00:37
In many organs, that can cause problems
and they have an immunodeficiency.
00:42
So these patients have a susceptibility
to catalase positive organisms
which can be remembered by the mnemonic BEANS.
00:51
These include Burkholderia species,
such as Borkholderia cepacia,
Enterobacteriacea,
Aspergillus,
Nocardia,
and Staph aureus.
01:03
These are the ones that are a problem,
and in particular, it's Staph aureaus that can rear its ugly head quite a bit.
01:10
So, these children will present typically before 2 years of age.
01:15
And they often will develop a pneumonia,
such a staph pneumonia.
01:20
Remember, staph pneumonia looks a little bit different than classical pneumonia
in that the children are much sicker
and they can have a parapneumonic effusion
or an abscess in their lung.
01:31
In fact, they can develop abscesses thoughout their body
and in many organs.
01:37
These abscesses need to be drained
and it can be very care-challenging.
01:42
They frequently develop cellulitis
and it's usually Staph aureus.
01:47
Likewise, they can develop a septic athritis
or an osteomyelitis.
01:52
Anywhere where staph can get, these kids will get it.
01:56
They often have bacteremia and they may occasionally have
invasive fungal infections that can be challenging to treat.
02:04
So, how do we test for chronic granulomatous disease in children?
The best test is the dihydrorhodamine test or the DHR.
02:14
So send some blood off for a DHR.
02:17
If phagocytes fluoresce, they are normal.
02:20
If they don't, we suspect chronic granulomatous disease
and in most cases follow-up gene sequencing is indicated.
02:28
This test has replaced the older test which was the nitroblue-tetrazolium.
02:34
That's less commonly in use now.
02:37
How do we treat chronic granulomatous disease?
We typically treat it with interferon gamma
and we'll give them that during infections and as prophylaxis.
02:48
It's not cheap, but it's reasonably effective.
02:51
These patients generally require prophylaxis
with trimethoprim/sulfamethoxazol
for specifically Burkholderia.
03:00
And we'll give them antifungals as needed
for their fungal infections,
either topical or systemic.
03:07
So that's my brief summary of chronic granulomatous disease.
03:11
Thanks.