[CIS-PAGID] ADA deficiency hearing loss

[Nicholas Rider]

Hi All,

This is a terrific question and important for patients with ADA  
deficiency.  As you eluded to, Dr. Wasserman, there is scant  
literature about hearing loss in ADA deficiency; however it is  
reported.  Certainly, we do know that hearing impairment occurs beyond  
what it published.  We follow a 1 year old with ADA deficiency who is  
awaiting entry into the gene therapy trial.  We also have full service  
hearing lab at our Clinic and plan to evaluate our patient's hearing  
to address this question.  I presume that the high adenosine levels  
and metabolites affect the auditory nerves, but am not aware of a  
specific pattern on ABR associated with ADA deficiency.  Given the  
fact that we only follow a single patient, would those who follow  
larger numbers of these patients be interested in delving into this  
further?

Best Wishes,

Nick

Nicholas L. Rider, D.O.
Clinic for Special Children
535 Bunker Hill Road
Strasburg, PA 17579
Ph:  717-687-9407
Fx:   717-687-9237
nrider at clinicforspecialchildren.org



On May 26, 2011, at 11:34 AM, Richard Wasserman wrote:


> 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