[PAGID] progressive loss of hearing in 6 year old boy

[Ann Vukelich]

Jack blessings email

Jacqueline Sievers
United States Immunodeficiency Network
443-632-2556(office)

jsievers at primaryimmune.org


-----Original Message-----
From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Jack Bleesing
Sent: Thursday, September 10, 2009 9:34 AM
To: pagid at list.clinimmsoc.org
Subject: Re: [PAGID] progressive loss of hearing in 6 year old boy



1. I would consider no to "consider" genetic testing too long. Unless
genetic testing in Germany is completed as fast as cars drive on the
autobahns, it is going to take some time to rule out  genetically
determined causes of (mostly syndromic) deafness. See URL from my
Institution on the topic of genetic causes of hearing loss (including
which genes are currently looked at):


http://www.cincinnatichildrens.org/svc/alpha/m/molecular-genetics/hearing-loss/default.htm



2. Being the Devils's Advocate: Why wouldn't you try a more prolonged
course of immunosuppression? It is just immunosuppressive therapy! 

If you know of any labs that can identify the putative autoantibodies,
causing autoimmune deafness, I would like to know that as well. We have
seen several patients with this problem, who developed inflammatory
bowel disease later, and perhaps the presence of abnormal IBD serology
is as a good a "marker" of autoimmune predisposition as you can get
(assuming you have looked at other autoantibodies). Lastly, although I
have yet to find a patient with ALPS, who has autoimmune deafness, it
appears to be quite prevalent in lpr mice 

(Hear Res. 2007 Apr;226(1-2):209-17. Glucocorticoid impact on cochlear
function and systemic side effects in autoimmune C3.MRL-Faslpr and
normal C3H/HeJ mice.Trune DR, Kempton JB, Harrison AR, Wobig JL.) 


Regards,

JB

---------------------------------------------------------------------------
Jack J.H. Bleesing, M.D., Ph.D.
Associate Professor of Pediatrics
Cincinnati Children's Hospital Medical Center
Division of Bone Marrow Transplantation and Immune Deficiency
3333 Burnet Avenue, MLC 7015
Cincinnati, OH 45229
513-636-4266 (phone)
513-636-3549 (fax)



>>> "Walther, Joachim-Ulrich  Prof.Dr."

<Ju.Walther at med.uni-muenchen.de> 9/10/2009 9:11 AM >>>
To whom it may concern
 
Dear colleagues,
 
in the hope to direct my inquiry properly and adequately I put the
following question to clinicians and immunologists involved in acquired
deafness. 
I shall be extremely grateful for your comments and advice
 
Case:
Six year old boy, otherwise apart from mild gross motor retardation
healthy.
Left ear found to be nearly completely deaf at five years, apparently
after an underestimated loss of function over the years. Neonatal
hearing test normal.
Now quickly developing (within a few months) loss of hearing
contralaterally (low frequency spectrum). One course of steroid and
osmotoc iv therapy given. During the few weeks since no improvement and
no progression.    No family history, no consanguinity.
Clinically unremarkable.
No signs of inflammation and autoimmune activation in laboratory
results.
Ophthalmological findings normal.
Audiologist́s interpretation:    autoimmune mediated loss of hearing.
Advice: immunosuppressive therapy.
Our question: is this indicated ?
Genetic diagnosis is being considered, particularly to be able to avoid
unnnecessary immunosuppression.
 
Many thanks for your help
 
  
Prof.Dr.med.J.-U.Walther M.Sc.
Allgemeinpädiatrischen Ambulanz 
der Kinderklinik und Kinderpoliklinik
im Dr.v.Haunerschen Kinderspital
der Ludwig-Maximilians-Universität
Lindwurmstraße 4
80337  München
 
Tel.:    089 / 5160-2811
Fax:      "        "   -7722
mail:    Ju.Walther at med.uni-muenchen.de
<blocked::mailto:Ju.Walther at med.uni-muenchen.de> 
 


--------------------------------------------------------------------
IDF is a source of information on primary immunodeficiency diseases. The general information does not represent, and is not a substitute for, professional services specifically including the practice of medicine or other professional advice. IDF specifically disclaims any personal liability, loss or risk incurred as a consequence of the use and application, either directly or indirectly, of any information presented herein. All individuals should consult their medical or other competent professionals for health care, insurance coverage or similar guidance.  If any part of this email is inconsistent with the recipient’s medical caregivers’ advice, comply with the medical caregiver’s advice.

The information in this electronic transmission is confidential and intended only for the addressee.  Any use or disclosure by any other person compromises the confidential and private nature of this information and is prohibited and may be unlawful.  Anyone receiving this email in error should not rely on any information contained within.  If you receive this electronic transmission in error, please notify us immediately by telephone (800.296.4433), and delete this message without making a copy.