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

[Verbsky, James]

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

>