00:01
Welcome to our video
series on the liver.
00:04
Now in this one, we're going to
look at a very special example
of Wilson's disease.
00:08
It doesn't happen very often,
but when it does occur, it can be
life-threatening without treatment.
00:15
So let's start with a review of
how copper is excreted in the body
because that's the key to
understanding Wilson's disease.
00:22
It's a buildup of
copper in your body.
00:25
In a healthy body, by age one,
you have these pathways worked
out that involve your liver
that can help you get
rid of the excess copper.
00:34
The excess copper
goes through the liver
and it is then sent to the
kidneys to be excreted.
00:39
That's how it should be working
well in efficiently by age one,
but in Wilson's disease
it's a rare inherited
recessive gene abnormality.
00:49
There's an impairment
in that copper transport
either the pathways
weren't created or
the ones that are
there just don't work.
00:57
So let's talk about
a real life example.
00:59
Let's take two people,
they don't know each other yet,
but they each carry the recessive
gene for Wilson's disease.
01:07
That's why you see the little pinkish
colored half of that circle, right?
So we've got two people,
they don't know each other yet,
but they both have the recessive
gene for Wilson's disease.
01:17
Now they meet and they decide
to start a family together.
01:21
So what are the odds
that this recessive gene is going
to be passed on to their children
when they decide
to have children.
01:28
Well because both parents have the
recessive gene for Wilson's disease.
01:32
These are the odds that their
children will carry that disease.
01:35
Okay so they've got
a one in four chance
that the child won't
have the disease
and the child won't
carry the gene.
01:43
Now they have a 2 in 4
chance or about a 50% chance
that the child won't
have the disease,
but will carry the gene.
01:53
Now sadly they also have
a one in four chance
that the child will
have Wilson's disease.
01:59
Remember only about One in
30,000 people have this disease
but it is a possibility
when two people
who have the
recessive gene marry
or decide to have children.
02:10
So when you're thinking
about these copper deposits,
let's bring up the organs
one by one on the screen
to help you focus on the ones
that have the most problem.
02:19
Now we know the patient is our
ability to excrete copper and bile
is not working, right?
So normally the liver
is filtering things
and helping us
excrete that in bile.
02:30
It's not working well in
someone with Wilson's disease.
02:33
So it's building up in
organs like your liver,
your brain,
and you'll even see
a sign in your eyes.
02:41
Now we talked about the liver.
02:42
They're going to show you signs like
someone whose liver is not doing well
like we would see in
other liver diseases
when it starts
impacting your brain.
02:50
We're going to see both
some CNS types of changes
and some mood disorders.
02:55
Now in your eyes, we're going to
show you a really unique picture
of a classic sign of Wilson's disease
if you look at the patient's eye.
03:03
Now we talked about the brain, but I want
you to be familiar with this other name
hepatolenticular degeneration.
03:09
So hepato refers to your liver,
lenticular refers to your brain.
03:15
Because in our brains most
of the copper is deposited
in the basal ganglia,
particularly we're talking
about very special places there
together that are called,
the lenticular nucleus.
03:26
Now these areas are normally involved
in the coordination of movement.
03:31
Okay this is why
it's starting to make
a really important point for you
because when you think about the
lenticular area of the brain,
but in the basal ganglia,
now this is involves the
patient's ability to move
and to coordinate that movement.
03:46
It's also a big player in
your neurocognitive processes
think of things like processing
stimuli and mood regulation.
03:54
So next to our brain there.
03:56
I want you to write
two M's one for mood
and one for movement.
04:02
So hepatolenticular
generation is
just another name
for Wilson's disease,
but it will kind of help you remember
the big areas that it impacts:
the liver and the brain.
04:14
And next to this brain,
I want to make sure you've taken
the time to write mood and movement,
because we're going to see
problems in both of those areas.
04:23
Now as we go through
this video series,
I'm going to show
you some long lists,
and you know how
I feel about list
if you watch videos with
us for very long at all.
04:33
I'm going to give
you some pointers,
but the most important thing
for you to remember about
the impact on the brain
is mood and movement
because these copper
excretory pathways,
that sounds like
a very fancy name,
but that's just the way that we
get excess copper out of your body.
04:50
They're either failing or
they were never developed.