In this lecture, I'm going to briefly review
chronic granulomatous disease.
So, chronic granulomatous disease is a defect in NADPH oxidase.
What this means is patients have an inability
to manufacture a superoxide free radical
in their neutrophils and in their macrophages.
And as we know, this is how they break things down.
So they have a reduced ability to kill bacteria through encapsulation.
As a result, these patients form granulomas.
In many organs, that can cause problems
and they have an immunodeficiency.
So these patients have a susceptibility
to catalase positive organisms
which can be remembered by the mnemonic BEANS.
These include Burkholderia species,
such as Borkholderia cepacia,
and Staph aureus.
These are the ones that are a problem,
and in particular, it's Staph aureaus that can rear its ugly head quite a bit.
So, these children will present typically before 2 years of age.
And they often will develop a pneumonia,
such a staph pneumonia.
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.
In fact, they can develop abscesses thoughout their body
and in many organs.
These abscesses need to be drained
and it can be very care-challenging.
They frequently develop cellulitis
and it's usually Staph aureus.
Likewise, they can develop a septic athritis
or an osteomyelitis.
Anywhere where staph can get, these kids will get it.
They often have bacteremia and they may occasionally have
invasive fungal infections that can be challenging to treat.
So, how do we test for chronic granulomatous disease in children?
The best test is the dihydrorhodamine test or the DHR.
So send some blood off for a DHR.
If phagocytes fluoresce, they are normal.
If they don't, we suspect chronic granulomatous disease.
This test has replaced the older test which was the nitroblue-tetrazolium.
That's less commonly in use now.
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.
It's not cheap, but it's reasonably effective.
These patients generally require prophylaxis
for specifically Burkholderia.
And we'll give them antifungals as needed
for their fungal infections,
either topical or systemic.
So that's my brief summary of chronic granulomatous disease.