[PAGID] siblings with possible APECED and lung disease

[Charles.Kirkpatrick at UCHSC.edu]

Jennifer, another option would be to refer the patients to the
Immunology Clinic at University Hospital.  We already are working with
Endocrinology on other patients

With endocrine and immunologic disorders.  If this interests you, I can
be reached at X56596.

 

Charles Kirkpatrick, M.D.

 

-----Original Message-----
From: pagid-bounces at clinimmsoc.org [mailto:pagid-bounces at clinimmsoc.org]
On Behalf Of Jack Routes
Sent: Monday, December 26, 2005 4:12 PM
To: pagid at clinimmsoc.org
Subject: Re: [PAGID] siblings with possible APECED and lung disease

 

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 

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