Autosomal dominant Ménétrier-like disease.
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.
Department of Pediatrics, Federico II University of Naples, Naples, Italy.
Caterina
C
Strisciuglio
Vito D
VD
Corleto
Nicola
N
Brunetti-Pierri
Pasquale
P
Piccolo
Riccardo
R
Sangermano
Guido
G
Rindi
Maurizio
M
Martini
Francesco P
FP
D'Armiento
Annamaria
A
Staiano
Erasmo
E
Miele
D016022:Case-Control Studies; D002675:Child, Preschool; D005190:Family; D005260:Female; D005753:Gastric Mucosa / Q000378:metabolism; D005758:Gastritis, Hypertrophic / Q000235:genetics* / Q000378:metabolism; D005799:Genes, Dominant; D006801:Humans; D006965:Hyperplasia; D008297:Male; D010375:Pedigree; D011506:Proteins / Q000378:metabolism*; D013270:Stomach / Q000473:pathology*; D016211:Transforming Growth Factor alpha / Q000378:metabolism*
D011506:Proteins; D016211:Transforming Growth Factor alpha