[PAGID] siblings with possible APECED and lung disease

[notarang at med.unibs.it]

I am convinced that indeed APECED is the most likely diagnosis. We have 
followed several patients who have develòped very severe lung disease 
(ultimately with fatal outcome).
While I don't know which centers would be in the best position to provide 
comprehensive clinical care in the US, I would be happy to offer genetic 
testing for free, considering the social situation of the family.

If you are interested, let me know

Luigi D. Notarangelo
Head, Department of Pediatrics
University of Brescia
Spedali Civili
25123 Brescia
Italy
e-mail: notarang at med.unibs.it



> 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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