[CIS PIDD] [cis-pidd] APECED with collagenous colitis

[CIS-PIDD]

Dear Theresa,


Happy to discuss further, please email me directly at lionak<mailto:lionakism at mail.nih.gov>ism at nih.gov<mailto:ism at nih.gov> and will give you all the details about APECED gut disease, as we have seen >100 APECED patients at NIH.

Best

Mihalis

*******************************************
Mihalis S. Lionakis, MD, ScD
Senior Investigator
Chief, Fungal Pathogenesis Section
Laboratory of Clinical Immunology & Microbiology (LCIM)
National Institute of Allergy & Infectious Diseases (NIAID), NIH

Mail: 9000 Rockville Pike, Bldg 10 / Rm 11C102, Bethesda, MD 20892<x-apple-data-detectors://29/0>
Tel: 301-443-5089<tel:301-443-5089>
Fax: 301-480-4507<tel:301-480-4507>
Email: lionakism at mail.nih.gov<mailto:lionakism at mail.nih.gov>
Website: https://www.niaid.nih.gov/lab-sections/3070


On May 17, 2018, at 12:54 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Dear Colleagues

I would be very interested in your thoughts regarding a 7 year old boy with APECED (confirmed AIRE mutation) with chronic diarrhoea. He was diagnosed with APECED following presentation with Addisons and hypoparathyroidism as a young child. He also has hypomagnesaemia, requiring high dose oral supplements.

I have been seeing him for the last two years and he has had gradual increasing difficulty with loose stool. He opens his bowels 4-5 times per day and has daily abdominal pain. He has occasional faecal incontinence at school. His stool frequency has not changed despite reducing his oral magnesium supplements. He growth appears unaffected, with weight maintained on 50th centile and height 25th centile. Stool culture and viral studies (rota & norovirus) are consistently negative. C.difficile negative. Stool calprotectin raised at 259 ug/g (normal <50ug/g). He did have adenovirus gastroenteritis in 2017 but has since cleared this.

He recently underwent gastroscopy and colonoscopy and the findings have somewhat surprised our histopathologists. He has collagenous colitis, with completely normal upper GI biopsies, with normal villi and no evidence of loss of neuroendocrine cells, as previously described in APECED. From my reading, there is a suggested association between collagenous colitis and other autoimmune conditions in children but I cannot see that it has previously been described in APECED.

Has anyone seen this in their APECED patients and are there any recommendations for specific treatment? The limited literature in collagenous colitis seems to suggest steroids may be helpful but I would be keen to hear from anyone that has seen a similar case?

Many thanks


Dr Theresa Cole
Paediatric Immunologist Allergist
Department of Allergy & Immunology

The Royal Children's Hospital Melbourne
50 Flemington Road Parkville 3052 Victoria
T: 03 9345 5701 F:03 9345 4848
www.rch.org.au<http://www.rch.org.au>

This email and subsequent correspondence including any files transmitted with it may be confidential and are intended solely for the use of the individual or entity to whom they are addressed. If you have received this email in error, please notify the sender by return email immediately and erase all copies of this message and attachments.

Please consider the environment before printing this e-mail

---

You are currently subscribed to cis-pidd as: lionakism at mail.nih.gov<mailto:lionakism at mail.nih.gov>.

To unsubscribe click here: http://cts.dundee.net/u?id=104347468.3d51971ef6c41d5427616c2a4fd0eb1a&n=T&l=cis-pidd&o=4907350

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-4907350-104347468.3d51971ef6c41d5427616c2a4fd0eb1a at lyris.dundee.net<mailto:leave-4907350-104347468.3d51971ef6c41d5427616c2a4fd0eb1a at lyris.dundee.net>

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=4908127
or send a blank email to leave-4908127-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20180517/d8b48411/attachment-0001.html>