[CIS-PAGID] 16 yr old boy with difficult to control Autoimmune Enteropathy

[Jane Peake]

Yes we have done that - normal

Sent from my iPhone

On 18/05/2012, at 3:20 PM, "Verbsky, James" <jverbsky at mcw.edu> wrote:


> Foxp3 sequence?

> 

> Sent from my iPhone

> 

> On May 17, 2012, at 11:55 PM, "Jane Peake" <j.peake at uq.edu.au> wrote:

> 

>> 

>> Hi 

>> I would appreciate any thoughts regarding management of this difficult case. 

>> 

>> Initial presentation age 9 months with diarrhoea and poor weight gain

>> - Duodenal biopsies (on gluten free diet) total absence of villi, inflammatory infiltrate

>> - Diagnosed as autoimmune enteropathy

>> - Good clinical response to steroids; also required period on TPN    

>> - Maintained on Cyclosporine - gradually weaned off

>> - Off all treatment by ~ 4yrs of age

>> 

>> Relapse 2004 (age 8):

>> - Presented with severe watery diarrhoea

>> - Partial villous atrophy and inflammatory infiltrate

>> - Treated with steroids, then maintained on Tacrolimus with good control

>> 

>> Relapse 2008 (age 12):

>> - Over next couple of years treatments tried (and in various combinations) sirolimus, pulse methyl prednisolone, azathioprine, Tacrolimus, infliximab

>> - Currently on azathioprine, tacrolimus, prednisone

>> - Over last 4 years TPN dependent, completely intolerant of any oral intake including amino acid formulas

>> - Still has 2-3 vomits daily and approx 3 loose bowel motions daily

>> - Anti-enterocyte Ab - neg; FOXP3 expression normal

>> - Only other Hx of note: R renal artery stenosis following investigation for hypertension - R nephrectomy 1998

>> - No other problems at all

>> - Life is miserable for him!!

>> 

>> 

>> I was considering Rutuximab but am unable to find any literature on the use of this in this setting. Any thoughts would be very much appreciated. 

>> 

>> Kind regards Jane

>> 

>> 

>> Dr Jane Peake

>> Paediatric Immunologist and Allergist

>> Senior Lecturer

>> University of Queensland

>> level 3 Foundation Building

>> Royal Children's Hospital

>> Herston Rd, Herston QLD 4029

>> Tel (61 7) 33655333 or 36365059

>> Fax (61 7) 33655455

>>