Autosomal dominant Ménétrier-like disease.

C Stisciuglio, Vd Corleto, N Brunetti Pierri, Guido Rindi, P Piccolo, R Sangermano, Maurizio Martini, Fp D'Armiento, A Staiano*, E. Miele

*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivistaArticolopeer review

5 Citazioni (Scopus)

Abstract

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.
Lingua originaleInglese
pagine (da-a)717-720
Numero di pagine4
RivistaJournal of Pediatric Gastroenterology and Nutrition
Numero di pubblicazione55(6)
DOI
Stato di pubblicazionePubblicato - 2012

All Science Journal Classification (ASJC) codes

  • Pediatria, Perinatologia e Salute del Bambino
  • Gastroenterologia

Keywords

  • Metrier

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