Enter your Email address:
Wolters Kluwer Health may email you for journal alerts and information, but is committed
to maintaining your privacy and will not share your personal information without
You currently have no recent searches
Baylor College of Medicine Houston, TX
To the Editor: Lemale et al (1) published a comprehensive review on the histology and associated clinical outcomes of 7 patients with clinical congenital tufting enteropathy (CTE), concluding that histological features cannot predict outcomes and that new biomarkers would be helpful. This latter conclusion is perplexing because, as cited by the authors, mutations in the epithelial cell adhesion molecule (EpCAM) have been linked to CTE in 2008 (2). Furthermore, the sequencing of this gene can provide a genetic diagnosis. It would have been invaluable to have included EpCAM sequencing in their cohort. Phenotypic overlaps with other forms of congenital diarrheas (eg, syndromic congenital sodium diarrhea) can complicate the clinical diagnosis of CTE (3). Therefore, molecular testing could have aided the genetic confirmation of CTE and the potential delineation of novel genotype–phenotype correlations. In fact, homozygous single base pair mutations (c.498insC) in EpCAM have already been associated with a milder, total parenteral nutrition–free course of CTE in 1 patient (4). This latter patient developed chronic arthropathy around 4 years of age, whereas a nearby heterozygous splice-site mutation (c.491 + 1G > A) was detected in a child with CTE who developed juvenile rheumatoid arthritis at 5 years (5). Chronic arthropathy and mild dysmorphic features are the only extraintestinal manifestations that have been associated with EpCAM-linked CTE. Similar genotype–phenotype correlations could have been drawn from the study of Lemale et al, and would have been useful for the prognostics of future patients and the unraveling of CTE pathogenesis. It is hoped that this group will report these test results in the near future.
Copyright 2011 by ESPGHAN and NASPGHAN
Colleague's E-mail is Invalid
Your Name: (optional)
Separate multiple e-mails with a (;).
Thought you might appreciate this item(s) I saw at Journal of Pediatric Gastroenterology and Nutrition.
Send a copy to your email
Your message has been successfully sent to your colleague.
Some error has occurred while processing your request. Please try after some time.
An Existing Folder
A New Folder
The item(s) has been successfully added to "".
Login with your LWW Journals username and password.
Username or Email:
Enter and submit the email address you registered with. An email with instructions to reset your password will be sent to that address.
Link to reset your password has been sent to specified email address.
What does "Remember me" mean?
By checking this box, you'll stay logged in for
days or until you logout. You'll get easier access to your articles, collections,
media, and all your other content, even if you close your browser or shut down your
To protect your most sensitive data and activities (like changing your password),
we'll ask you to re-enter your password when you access these services.
What if I'm on a computer that I share with others?
If you're using a public computer or you share this computer with others, we recommend
that you uncheck the "Remember me" box.
Save my selection
Visit JPGN.org on your smartphone. Scan this code (QR reader app required) with your phone and be taken directly to the site.