[PAGID] siblings with possible APECED and lung disease

[Jack Routes]

Hi Jennifer
You can refer the patients to my immunodeficiency clinic---we can manage the
immune and pulmonary problems---would need to work in concert with
CU-Endocrinology service to deal with the endocrine problems. Feel free to
give me a call at the beginning of next year
Jack Routess

-- 
John M. Routes, M.D.
Associate Faculty Member
National Jewish Medical Research Center
Associate Professor of Medicine and Immunology
University of Colorado Health Sciences Center

Address: 1400 Jackson St.; Denver, CO 80206
Phone: 303-398-1291;  FAX: 303-398-1806;  email: routesj at njc.org


From: Jennifer.Barker at UCHSC.edu
Reply-To: pagid at clinimmsoc.org
Date: Thu, 22 Dec 2005 09:29:47 -0700
To: pagid at clinimmsoc.org
Subject: [PAGID] siblings with possible APECED and lung disease

Hi all, we received a e mail consult from a physician who is caring for
siblings that are described below:  any input would be appreciated.

thanks 
Jennifer: 

I have 2 patients - a brother and a sister.

The sister, SC, is a 21 year old.  She has parathyroid failure (I
treat her with forteo, rocaltrol and calcium carb. oral suspension),
adrenal insufficiency, muco-cutaneous candidiasis, dental/nail
abnormalities, ovarian failure.  She also has had recurrent, severe,
pneumonitis/bronchitis/asthma episodes with almost monthly
hospitalizations.  Often her CRP is >30.  She has some early signs of
brochiectasis from necrotizing pneumonia.  Most recently she grew
MRSA from her sputum - either the pathogen, or a fellow traveller -
she is improving with vancomycin.  She also has chronic abdominal
pain and malabsorbs iron and vitamin D.

Her brother, AC, is 18 year old.  He has worse lung findings and is
on home nebulized tobramicin.  He has pernicious anemia, candidiasis,
nail changes, parathyroid failure.

I have no access to testing the AIRE gene - I wonder if there is a
new mutation, or a deletion into surrounding areas to explain the
severe lung disease.  We have looked at the possibility of
coincidental cystic fibrosis - we think we have ruled this out.

I am concerned for these young people as their father died at 29
years old of what sounds like the same disease.

Do you have a good idea of a clinical center that would be able
to deal with the 3 components of this problem:  the polyglandular
endocrine side, the complex/subtle immune dysregulation and the
severe pulmonary manifestations.

These patients have Medicaid and have few resources themselves.




Jennifer M. Barker, MD
Instructor in Pediatrics
Barbara Davis Center
University of Colorado Health Sciences Center

CONFIDENTIALITY NOTICE: The information contained in this message is legally
privileged and confidential information intended only for the use of the
individual or organization to whom it is addressed. If the reader of this
message is not the intended recipient, or the employee or the agent
responsible to deliver it to the intended recipient, be advised that you
have received this e-mail in error and that any use, dissemination,
forwarding, printing or copying of this e-mail is strictly prohibited. If
you have received this e-mail in error, please notify the author immediately
by replying to this message and delete the original message. Thank you.


-------------- next part --------------
An HTML attachment was scrubbed...
URL: http://seven.pairlist.net/mailman/private/pagid/attachments/20051226/1755240c/attachment.html