[PAGID] Autoinmmune enteropathy?

[Sabiha Anis]

What are the results of stool D/R.  Have you ruled out worm infestations?

 

Regards

Sabiha anis
 


Date: Fri, 7 Aug 2009 14:00:55 +0200
From: nachgonzalez at gmail.com
To: pagid at list.clinimmsoc.org
Subject: [PAGID] Autoinmmune enteropathy?


7 year old female (RM)  with severe chronic diarrea with neonatal onset. Cuacasian. She has persistent malabsortion. She required parenteral nutrition when she was eighteen month old (for severe malnutrition). Intestinal biopsy (2002): moderate partial vellous atrophy. 
 
Her sister (AM) suffers from refractory celiac disease (CD) with persistent antigliadin and antitransglutaminase positive despite strictly gluten free diet. 
 
The patient (RM) presents negative celiac serology. HLA is not compatible with celiac disease.  Intraepitelial lymphocytes are not compatible with CD (in 2002 and now). Antienterocyte antibodies are also negative (in 2002 and now).  CD25+ and FOXP3+ are in normal  range (this month). She has persistent IgE elevation (around 1000 IU/mL). Anti TPO levels were slightly elevated once (Dec´08) but now are in normal range. Anti PCA (parietal cell antibodies are slightly positive: 1/80 ) ANA + 1/40 (normal) .  We have ruled out food allergies.  IgG,A,M normal. Lymphocyte subpopulations: normal.
She is now admitted for severe diarrhea and malnutrition. 
 
We are not sure about starting steroid therapy. We'd really appreciate helpful suggestions about diagnosis and treatment.
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