Autosomal dominant Ménétrier-like disease.

Caterina Strisciuglio, Vito D. Corleto, Nicola Brunetti-Pierri, Pasquale Piccolo, Guido Rindi, Riccardo Sangermano, Maurizio Martini, Francesco P. D'Armiento, Annamaria Staiano, Erasmo Miele

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

5 Citazioni (Scopus)


BACKGROUND: Familial occurrence of Ménétrier disease is rare and has been reported only in few instances. METHODS: Affected patients from a large pedigree were evaluated at the clinical, endoscopic, and pathological levels. RESULTS: Affected 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. CONCLUSIONS: We 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.
Lingua originaleEnglish
pagine (da-a)717-720
Numero di pagine4
RivistaJournal of Pediatric Gastroenterology and Nutrition
Stato di pubblicazionePubblicato - 2012


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