[CIS-PAGID] ADA deficiency hearing loss

[Kobrynski, Lisa]

We have one patient with ADA deficiency who had evidence of sensorineural hearing loss on ABR (newborn testing) and also had optic nerve hypoplasia diagnosed by the opthalmologists.  Now she is one year post-HSCT and her optic nerves appear normal, and her hearing is markedly improved. Possibly there was cellular damage due to the accumulation of the adenosine which has now resolved after immune reconstitution?

Since many ADA deficient patients show a decline in lymphocyte number and function over time on Adagen - how has this patient done in that regard?



We also have a patient with PNP deficiency, mild hearing loss and some spasticity of the lower limbs who is post transplant now, with some evidence of neurologic improvement.  Similar mechanism?

Lisa





Lisa Kobrynski, MD, MPH
Associate Professor of Pediatrics
Section, Allergy/Immunology
________________________________
From: pagid-bounces at list.clinimmsoc.org [pagid-bounces at list.clinimmsoc.org] on behalf of Richard Wasserman [drrichwasserman at gmail.com]
Sent: Thursday, May 26, 2011 11:34 AM
To: PAGID
Subject: [CIS-PAGID] ADA deficiency hearing loss

I care for a 13 year old with ADA deficiency doing well on Adagen who has progressive hearing loss. I know that this is a recognized association. He is getting a cochlear implant and the otologist has made a diagnosis of otic neuropathy. Is the pathogenesis of hearing loss in ADA deficiency known? Is there any suggestion of autoimmunity as a cause?
Thanks,
Richard Wasserman

--
Richard L. Wasserman, MD, PhD
DallasAllergyImmunology
7777 Forest Lane, Suite B-332
Dallas, Texas 75230
Office (972) 566-7788
Fax (972) 566-8837
Cell (214) 697-7211

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