48,830
edits
Difference between revisions of "Juvenile polyposis syndrome"
Jump to navigation
Jump to search
Juvenile polyposis syndrome (view source)
Revision as of 02:27, 27 September 2011
, 02:27, 27 September 2011more
(more) |
(more) |
||
| Line 1: | Line 1: | ||
'''Juvenile polyposis syndrome''', abbreviated '''JPS''', is an autosomal dominant inherited condition | '''Juvenile polyposis syndrome''', abbreviated '''JPS''', is an autosomal dominant inherited condition due to a mutation in SMAD4<ref name=omim600993>{{OMIM|600993}}</ref> or BMPR1A.<ref name=omim601299>{{OMIM|601299}}</ref> | ||
==General== | |||
It is characterized by ([[hamartomatous]]) [[juvenile polyps]]. | It is characterized by ([[hamartomatous]]) [[juvenile polyps]]. | ||
Individuals with JPS have an increased risk of cancer. | Individuals with JPS have an increased risk of gastrointestinal cancer. Classically, individuals with JPS get [[colorectal carcinoma]].<ref name=pmid20301642>{{Cite journal | last1 = Pagon | first1 = RA. | last2 = Bird | first2 = TD. | last3 = Dolan | first3 = CR. | last4 = Stephens | first4 = K. | last5 = Larsen Haidle | first5 = J. | last6 = Howe | first6 = JR. | title = Juvenile Polyposis Syndrome | journal = | volume = | issue = | pages = | month = | year = | doi = | PMID = 20301642 }}</ref> | ||
Note: | |||
*SMAD4 is also associated with ''[[hereditary hemorrhagic telangiectasia syndrome]]''.<ref name=omim600993>{{OMIM|600993}}</ref> | |||
==Criteria for Dx of JPS== | |||
One of the following:<ref name=pmid20301642>{{Cite journal | last1 = Pagon | first1 = RA. | last2 = Bird | first2 = TD. | last3 = Dolan | first3 = CR. | last4 = Stephens | first4 = K. | last5 = Larsen Haidle | first5 = J. | last6 = Howe | first6 = JR. | title = Juvenile Polyposis Syndrome | journal = | volume = | issue = | pages = | month = | year = | doi = | PMID = 20301642 }}</ref> | |||
#Five juvenile polyps in the colorectum. | |||
#"Multiple" juvenile polyps through-out GI tract. | |||
#Juvenile polyp + family history of JPS. | |||
Note: | |||
*"Multiple" is not defined. | |||
==See also== | ==See also== | ||
*[[Gastrointestinal polyps]]. | *[[Gastrointestinal polyps]]. | ||
*[[Peutz-Jeghers syndrome]]. | |||
==References== | ==References== | ||