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Parent Alert
Parents should be aware of a dangerous condition which
can be present in children with Joubert Syndrome. Some
children have been diagnosed with kidney disease that
has resulted in the need for dialysis and eventual
kidney transplant.
The article "Joubert Syndrome: A Review" suggests that
those children with Retinal Degeneration appear to also
develop kidney disease. Retinal Degeneration can only be
diagnosed accurately by ERG (Electroretinogram). This
procedure requires that the child be sedated and
diagnosis made by a neuro-opthamologist. Ultrasound can
be helpful in detecting kidney disease. Blood work that
could suggest kidney disease is BUN (Blood-Urea
Nitrogen) and Creatinine levels.
Please also look at the
Recommendations for Evaluation
and Monitoring of Patients with Joubert Syndrome and
Related Disorders. You may also wish to give a copy of
this paper to your doctors as well.
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The views expressed do
not necessarily reflect those of the donors. The articles,
announcements, and resources included on this website are
for information only and should not be considered as medical
advice. Please always consult your physician for medical
advice. The Joubert Syndrome Foundation & Related Cerebellar
Disorders does not endorse any product, service, or theory
referred to on the website.
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