TY - JOUR
T1 - Autosomal dominant Ménétrier-like disease.
AU - Stisciuglio, C
AU - Corleto, Vd
AU - Brunetti Pierri, N
AU - Rindi, Guido
AU - Piccolo, P
AU - Sangermano, R
AU - Martini, Maurizio
AU - D'Armiento, Fp
AU - Staiano, A
AU - Miele, E.
PY - 2012
Y1 - 2012
N2 - BACKGROUND: Familial occurrence of Ménétrier disease is rare and has been reported only in few instances.\r\nMETHODS:\r\nAffected patients from a large pedigree were evaluated at the clinical, endoscopic, and pathological levels.\r\nRESULTS:\r\nAffected members presented with gastropathy of variable severity but without protein loss. Endoscopy and pathology findings were consistent with Ménétrier disease; however, gastric transforming growth factor α (TGF-α) immunohistochemistry and real-time polymerase chain reaction showed no increase in TGF-α expression.\r\nCONCLUSIONS:\r\nWe describe a unique, 4-generation pedigree with autosomal dominant gastropathy exhibiting the typical clinical, endoscopic, and pathological findings of Ménétrier-like disease, though in the absence of protein loss and with no increase in the levels of gastric TGF-α. Members of this family may be affected by a novel and previously unrecognised hereditary form of gastric hyperplasia.
AB - BACKGROUND: Familial occurrence of Ménétrier disease is rare and has been reported only in few instances.\r\nMETHODS:\r\nAffected patients from a large pedigree were evaluated at the clinical, endoscopic, and pathological levels.\r\nRESULTS:\r\nAffected members presented with gastropathy of variable severity but without protein loss. Endoscopy and pathology findings were consistent with Ménétrier disease; however, gastric transforming growth factor α (TGF-α) immunohistochemistry and real-time polymerase chain reaction showed no increase in TGF-α expression.\r\nCONCLUSIONS:\r\nWe describe a unique, 4-generation pedigree with autosomal dominant gastropathy exhibiting the typical clinical, endoscopic, and pathological findings of Ménétrier-like disease, though in the absence of protein loss and with no increase in the levels of gastric TGF-α. Members of this family may be affected by a novel and previously unrecognised hereditary form of gastric hyperplasia.
KW - Metrier
KW - Metrier
UR - https://publicatt.unicatt.it/handle/10807/41046
UR - https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=84870891349&origin=inward
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84870891349&origin=inward
U2 - 10.1097/MPG.0b013e3182645c2f
DO - 10.1097/MPG.0b013e3182645c2f
M3 - Article
SN - 0277-2116
SP - 717
EP - 720
JO - Journal of Pediatric Gastroenterology and Nutrition
JF - Journal of Pediatric Gastroenterology and Nutrition
IS - 55(6)
ER -