What Causes Cronkhite-Canada Syndrome

No one knows.  I am only aware of two research activities that have been performed for Cronkhite-Canada Syndrome.  One was a very limited study at the University of Texas and the other is summarized in the below article.

http://www.nature.com/ajg/journal/v111/n5/pdf/ajg201692a.pdf

The hypothesized cause of CCS in the below article is…….

“that such events might be caused by one or more rare germline mutations, or one more key somatic mutation. caused by one or more rare germline mutations, or one more key somatic mutation.”

The article states….. “On germline analysis, we identifi ed a rare variant affecting PRKDC , protein kinase DNA-activated catalytic polypeptide (DNA-PKcs).”  The article goes on to state…..  “Interestingly, a review of the literature suggests that PRKDC dysfunction might account for some of the manifestations of CCS.”

The article also suggests a possible treatment.

“In summary, we present a prototypical case of CCS with a marked response to anti-TNF therapy not only supporting early use of TNF inhibitors as a possible first-line approach but also suggesting that this syndrome is fundamentally inflammatory in nature.”

I do not understand much of the science in this article.   I do find this statement encouraging.

“Accordingly, PRKDC may merit further investigation, including examination of whether other individuals with CCS have PRKDC variations.”

I would jump at the chance to have someone determine if I have a “PRKDC varation.”  I believe that others with CCS would likely feel similar.

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The below article is related to research associated with phenotypes that mentions Cronkhite Canada Syndrome within the paper – as is relates to hair loss.  The link is below followed by the papers conclusion.

http://www.nature.com/articles/srep10888?WT.ec_id=SREP-639-20150609&spMailingID=48835767&spUserID=ODkwMTM2NjQzMgS2&spJobID=701124071&spReportId=NzAxMTI0MDcxS0

“Conclusions

Exploring diseases through their associated phenotypes has major applications for biomedical research, and several studies have primarily relied on disease phenotypes to reveal functional disease modules12,26,35, candidate genes of disease14,37, prioritize genes in GWAS studies38, and investigate drug targets and indications17,18,39,40. While the majority of these investigations have been focused on genetic diseases, application of similar methods may lead to novel insights into the patho-biology of common and infectious diseases as well.”

 

 

 

 

 

 

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