Een jongeman met intestinale polyposis en epistaxis

Fred H. Menko; Maarten A. J. M. Jacobs; Johannes J. Mager; Jan J. Nicolaï; Arjen R. Mensenkamp; Cora M. Aalfs; J.J. Nicolai

Een jongeman met intestinale polyposis en epistaxis

Fred H. Menko, Maarten A. J. M. Jacobs, Johannes J. Mager, Jan J. Nicolaï, Arjen R. Mensenkamp, Cora M. Aalfs, J.J. Nicolai

Research output: Contribution to journal › Article › Professional

Abstract

Germline mutations in the SMAD4 gene lead to both juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia (HHT). A 23-year-old man underwent colectomy with ileo-anal pouch anastomosis at the age of 12 due to colorectal juvenile polyposis. At follow-up, recurrent juvenile polyps in the pouch were removed. No gastric polyps were found. The family history was negative for intestinal polyposis. In addition, the patient had recurrent epistaxis. DNA testing revealed a pathogenic SMAD4 mutation: c.1558G>T; p.(Glu520*). Further examination confirmed suspected HHT. DNA testing in patients with juvenile polyposis is important for subclassification of this syndrome with implications for the management of patients and family members

Original language	Dutch
Article number	A7398
Pages (from-to)	A7398
Journal	Nederlands Tijdschrift voor Geneeskunde
Volume	158
Publication status	Published - 2014

Access to Document

https://www.ntvg.nl/artikelen/een-jongeman-met-intestinale-polyposis-en-epistaxis/volledig

Cite this

@article{6b7b03cdd6a04ce0900090078f565f00,

title = "Een jongeman met intestinale polyposis en epistaxis",

abstract = "Germline mutations in the SMAD4 gene lead to both juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia (HHT). A 23-year-old man underwent colectomy with ileo-anal pouch anastomosis at the age of 12 due to colorectal juvenile polyposis. At follow-up, recurrent juvenile polyps in the pouch were removed. No gastric polyps were found. The family history was negative for intestinal polyposis. In addition, the patient had recurrent epistaxis. DNA testing revealed a pathogenic SMAD4 mutation: c.1558G>T; p.(Glu520*). Further examination confirmed suspected HHT. DNA testing in patients with juvenile polyposis is important for subclassification of this syndrome with implications for the management of patients and family members",

author = "Menko, {Fred H.} and Jacobs, {Maarten A. J. M.} and Mager, {Johannes J.} and Nicola{\"i}, {Jan J.} and Mensenkamp, {Arjen R.} and Aalfs, {Cora M.} and J.J. Nicolai",

year = "2014",

language = "Dutch",

volume = "158",

pages = "A7398",

journal = "Nederlands Tijdschrift voor Geneeskunde",

issn = "0028-2162",

publisher = "Vereniging Nederlands Tijdschrift voor Geneeskunde",

}

TY - JOUR

T1 - Een jongeman met intestinale polyposis en epistaxis

AU - Menko, Fred H.

AU - Jacobs, Maarten A. J. M.

AU - Mager, Johannes J.

AU - Nicolaï, Jan J.

AU - Mensenkamp, Arjen R.

AU - Aalfs, Cora M.

AU - Nicolai, J.J.

PY - 2014

Y1 - 2014

N2 - Germline mutations in the SMAD4 gene lead to both juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia (HHT). A 23-year-old man underwent colectomy with ileo-anal pouch anastomosis at the age of 12 due to colorectal juvenile polyposis. At follow-up, recurrent juvenile polyps in the pouch were removed. No gastric polyps were found. The family history was negative for intestinal polyposis. In addition, the patient had recurrent epistaxis. DNA testing revealed a pathogenic SMAD4 mutation: c.1558G>T; p.(Glu520*). Further examination confirmed suspected HHT. DNA testing in patients with juvenile polyposis is important for subclassification of this syndrome with implications for the management of patients and family members

AB - Germline mutations in the SMAD4 gene lead to both juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia (HHT). A 23-year-old man underwent colectomy with ileo-anal pouch anastomosis at the age of 12 due to colorectal juvenile polyposis. At follow-up, recurrent juvenile polyps in the pouch were removed. No gastric polyps were found. The family history was negative for intestinal polyposis. In addition, the patient had recurrent epistaxis. DNA testing revealed a pathogenic SMAD4 mutation: c.1558G>T; p.(Glu520*). Further examination confirmed suspected HHT. DNA testing in patients with juvenile polyposis is important for subclassification of this syndrome with implications for the management of patients and family members

M3 - Article

C2 - 25269631

SN - 0028-2162

VL - 158

SP - A7398

JO - Nederlands Tijdschrift voor Geneeskunde

JF - Nederlands Tijdschrift voor Geneeskunde

M1 - A7398

ER -