[CIS-PAGID] Cryptosporidium in CD40L

[Notarangelo, Luigi]

Hi Jennifer:

In addition to what we discussed already by phone, here is what I do in such cases for monitoring:

- LFT (including cholestasis) and bilirubin every 3 months
- liver US (every 6-12 months)
- I check for crypto in the stools, but best is by PCR. I used to send this out to Jim McLauchlin in London. Culture from stools is not sensitive enough
- functional cholangio-MRI may be used as an alternative to cholangiography to detect signs of sclerosing cholangitis. Indeed, cholangio-MRI is safer and I recommend it
- eventually, if there are doubts of severe liver/biliary tract disease, you will need a liver biopsy. Vanishing bile duct disease will be the first step before progressing to sclerosing cholangitis

In my experience severe diarrhea due to crypto is a real problem. You are doing all what can be donein terms of medical management. Make sure you keep high trough IgG as well. TPN may be required if absorption is poor, but in the long term it aggravates risks of bile duct disease.
If you find a good MUD, a non-depleted BMT (so that you also provide T cells) is the best approach, while continuing treatment for crypto.

Gigi

Luigi D. Notarangelo
Children's Hospital Boston

Sent from my Verizon Wireless BlackBerry

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From: "Puck, Jennifer" <puckj at peds.ucsf.edu>
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Date: Sun, 22 May 2011 12:55:42 -0400
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Subject: [CIS-PAGID] Cryptosporidium in CD40L


Would appreciate ideas for a young man with CD40L deficiency and a bad case of cryptosporidium. He was previously healthy on immunoglobulin, G-CSF for neutropenia, and TMP/SMX 3x per week for prophylaxis against pneumocystis (his presenting infection in infancy).
He first got a headache and then diarrhea 6-8 weeks ago, and his stool was positive for cryptosporidium as an outpatient. The diarrhea became explosive and bloody requiring hospital admission, and he continued to have secretory diarrhea and positive stools despite paromomycin, nitazoxanide, and azithromycin and TPN/complete NPO bowel rest.

There is no HLA-matched sibling for BMT, and we are looking at the unrelated donor registry. BMT may be the best long term option, and I have read that BMT be required to clear the infection.

Do others have experience with severe cryptosporidium in CD40L deficiency? Will symptoms eventually subside? What type of lab tests and imaging are useful to follow these patients? LFTs? Ultrasound? MRI? Endoscopy? Will attempts at oral feeding be helpful, neutral, or just induce further diarrhea and delay gut healing?

Jennifer M. Puck, M.D.
Professor of Pediatrics
University of California, San Francisco, Box 0519
513 Parnassus Avenue, HSE 301A
San Francisco, CA  94143-0519

Email: puckj at peds.ucsf.edu
Phone: 415 476-3181
FAX: 415 502-5127