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Autosomal Dominant Ménétrier-like Disease

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

Journal of Pediatric Gastroenterology & Nutrition:
doi: 10.1097/MPG.0b013e3182645c2f
Original Articles: Gastroenterology
Abstract

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.

Author Information

*Department of Pediatrics, “Federico II” University of Naples, Naples

Department of Digestive Endoscopy, Sant’Andrea Hospital, II School of Medicine, “Sapienza” University, Rome

Telethon Institute of Genetics and Medicine (TIGEM), Naples

§Institute of Pathology, Università Cattolica-Policlinico A. Gemelli, Rome

||Department of Biomorphological Science, “Federico II” University of Naples, Naples, Italy.

Address correspondence and reprint requests to Annamaria Staiano, MD, Department of Pediatrics, University Federico II, Via S. Pansini 5, 80131 Naples, Italy (e-mail: staiano@unina.it).

The study was supported by line D1/2010 & 2011 from Università Cattolica to G.R. and Fondazione Telethon (Italy) grant TGM06C07 to N.B.-P.

The authors report no conflict of interests.

Copyright 2012 by ESPGHAN and NASPGHAN