[PAGID] siblings with possible APECED and lung disease

[Lisa Filipovich]

We manage such patients. At my request the AIRE gene test has been set
up at Gene Dx and MA should pay for it. It takes about a month to get
the results back.
lisa

>>> Jennifer.Barker at UCHSC.edu 12/22/05 11:29 AM >>>
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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