Autosomal Dominant Menetrier-like Disease

作者：Strisciuglio Caterina; Corleto Vito D; Brunetti Pierri Nicola; Piccolo Pasquale; Sangermano Riccardo; Rindi Guido; Martini Maurizio; D' Armiento Francesco P; Staiano Annamaria^*; Miele Erasmo

来源：Journal of Pediatric Gastroenterology and Nutrition, 2012, 55(6): 717-720.

DOI：10.1097/MPG.0b013e3182645c2f

• gastrointestinal bleeding
• Menetrier disease
• transforming growth factor-alpha

Background: Familial occurrence of Menetrier disease is rare and has been reported only in few instances. %26lt;br%26gt;Methods: Affected patients from a large pedigree were evaluated at the clinical, endoscopic, and pathological levels. %26lt;br%26gt;Results: Affected members presented with gastropathy of variable severity but without protein loss. Endoscopy and pathology findings were consistent with Menetrier disease; however, gastric transforming growth factor a (TGF-alpha) immunohistochemistry and real-time polymerase chain reaction showed no increase in TGF-alpha expression. %26lt;br%26gt;Conclusions: We describe a unique, 4-generation pedigree with autosomal dominant gastropathy exhibiting the typical clinical, endoscopic, and pathological findings of Menetrier-like disease, though in the absence of protein loss and with no increase in the levels of gastric TGF-alpha. Members of this family may be affected by a novel and previously unrecognised hereditary form of gastric hyperplasia.

• 出版日期2012-12