Download Classic Bartter Syndrome information leaflet for patients and families

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For appointments in the
old hospital, please visit
the
Information Desk
for directions.
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Vin
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The service runs from
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Selly Oak
Hospital
Classic Bartter Syndrome
11
Outpatients Area 1
Main Outpatients
Building
2
Outpatients Area 2
Diabetic Unit
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Outpatients Area 5
H.A.R.C Centre
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Centre
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ark
You can use the above contact details
if you require further information or
have any questions regarding Bartter
Syndrome.
orne
[email protected]
Nuffield House
THQ
New Queen Elizabeth
Hospital Birmingham
eP
Steven Wise
(Renal Metabolic Clinical Nurse Specialist)
07810654864
Visitor / Patient
orn
Useful contacts
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and Staff Car
Park F only
For all appointments in
the Outpatients area of
the new hospital, please
enter through the main
entrance
and check
in using the self check-in
kiosks.
Harb
• www.barttersite.org
• www.raredisease.org.uk
• www.geneticalliance.org.uk
New Queen
Elizabeth Hospital
Birmingham
Staff
Car Park F
rb
Where can I find more
information?
Old QE Parking
– Car Park D
Shuttle
Birmingham
Women’s Hospital
Ha
The frequency of these appointments
may change and will be discussed with
you in the clinic.
636
Busy Bees
Nursery
e
We will review your blood results and
medications to ensure you continue
receive the appropriate treatment. We
also aim to provide support for you and
your family, and inform you of any other
support that is available, such as charities
and support groups.
B15 2WB
n
ley La
Metch
You will be seen in the Renal Metabolic
Clinic. We aim to provide an opportunity
for you to have a specialist consultation,
which will allow plenty of time for any
questions you may have.
www.uhb.nhs.uk
Queen Elizabeth Hospitals
Ne
w
What happens now?
Raddlebarn
11
Road
2
rn
Ra
dd
leb
ar
nR
Selly Oak Hospital B29 6JD
Fenced off area
oa
d
Correct at 03 October 2011
Queen Elizabeth Hospital Birmingham
Mindelsohn Way
Edgbaston, Birmingham, B15 2WB
Telephone: 0121 627 2000
(Old) Queen Elizabeth Hospital
Edgbaston
Birmingham, B15 2TH
Telephone: 0121 627 2000
An information
leaflet for patients
and families
Delivering the best in care
UHB is a no smoking Trust
To see all of our current
patient information leaflets please visit
PI11_1120_01 UHB/PI/1120 (Edition 1)
Author: Steven Wise Date: October 2011 Review Date: October 2013
Bartter Syndrome is not a single disorder
but rather a set of closely related
disorders. Variants of Bartter Syndrome
include:
• Classic Bartter Syndrome
• Gitelman’s Syndrome
• Antenatal Bartter Syndrome
This leaflet provides information about
Classic Bartter Syndrome.
What is Classic Bartter
Syndrome?
The kidneys, amongst many other things,
are responsible for controlling the volume
of body fluid and maintaining the level of
important electrolytes such as potassium
and sodium. Bartter Syndrome is a rare
inherited condition that prevents the
kidneys reabsorbing sodium, chloride and
potassium. It is a condition that can affect
males and females across all ethnic origins.
What are the Symptoms?
The symptoms of Bartter Syndrome
include:
• Tiredness
• Increased urination
• Increased thirst
• General weakness
• Salt cravings
• Dehydration
• Vomiting
• Tetany (muscle contraction)
• Confusion
How is it diagnosed?
Bartter Syndrome is usually diagnosed
in childhood or adolescence. Diagnosis is
based on physical examination and the
results of blood and urine tests.
What is the treatment?
At present there is no cure for Bartter
Syndrome. Treatment is mainly focused on
correcting dehydration and low potassium
levels through supplements.
Medications such as Spironolactone and
Triamterine may help to reduce the loss of
potassium. Indomethacin can also be used
to treat the effects of Bartter Syndrome.
What effect will it have on my
health?
The long-term effect of Bartter Syndrome
is uncertain. Many patients remain well,
but in some cases Bartter Syndrome can
impede growth in childhood and may
eventually affect the way in which your
kidneys filter toxins from the blood.
However early diagnosis and appropriate
treatment may improve growth and
intellectual development.
then that person will be a healthy carrier.
If both parents are carriers of the same
changed gene, they may pass on either
their normal gene or their changed gene
to their child.
Each child of parents who both carry the
Bartter gene therefore has a 25% chance
of inheriting a changed gene from both
parents and being affected by Bartter
Syndrome.
There is a 50% chance that the child will
inherit just one copy of the Bartter gene.
This means they will be healthy carriers
like their parents.
There is a 25% chance that the child
will inherit both normal copies of the
gene and will therefore not have Bartter
Syndrome or be a carrier of Bartter
Syndrome.
The chance remains the same in every
pregnancy and is the same for boys and
girls.
Autosomal recessive inheritance:
both parents are carriers
Parents
What about my family?
Bartter Syndrome is inherited in an
autosomal recessive pattern. This means
that a person must inherit two changed
copies of the same gene in order to have
Bartter Syndrome. If a person inherits
one changed gene and one normal gene,
Offspring
Unaffected Carrier
Carrier Affected