Autosomal Dominant Ménétrier‐like Disease

• DOI: 10.1097/mpg.0b013e3182645c2f
• Publication Date: 2012-11-17T08:16:28Z
• Authors: Caterina Strisciu...; Vito D. Corleto; Nicola Brunetti‐P...; Pasquale Piccolo; Riccardo Sangermano; Guido Rindi; Maurizio Martini; Francesco P. D'Ar...; Annamaria Staiano; Erasmo Miele
• Keywords: Male; 0303 health sciences; Hyperplasia; Stomach; Case-Control Studies; Child, Preschool; Family; Female; Gastric Mucosa; Gastritis, Hypertrophic; Humans; Hyperplasia; Male; Pedigree; Proteins; Stomach; Transforming Growth Factor alpha; Genes, Dominant; Proteins; Transforming Growth Factor alpha; Gastrointestinal bleeding; Ménétrier disease; Transforming growth factor-α; Pedigree; 3. Good health; 03 medical and health sciences; Metrier; Gastric Mucosa; Case-Control Studies; Child, Preschool; Humans; Family; Female; Gastritis, Hypertrophic; Genes, Dominant

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