Néoplasie endocrinienne multiple de type 1 : De la clinique au gène

Betea, Daniela; Valdes Socin, Hernan Gonzalo; Vanbellinghen, Jean-François; Beckers, Albert

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Néoplasie endocrinienne multiple de type 1 : De la clinique au gène

Betea, Daniela; Valdes Socin, Hernan Gonzalo; Vanbellinghen, Jean-François et al.

2003 • In Feuillets de Biologie, 44 (250), p. 39-48

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Keywords :

néoplasie endocrinienne; type 1; NEM 1

Abstract :

[fr] La Néoplasie Endocrinienne Multiple de type 1 (NEM 1), syndrome génétique à transmission autosomique dominante, est caractérisée principalement par l'atteinte des parathyroïdes, du tractus gastro-entéro-pancréatique et de l'antéhypophyse. Les manifestations cliniques de ce syndrome sont polymorphes. En fonction de l'organe affecté elles peuvent se manifester par l'hypersécrétion hormonale, par un syndrome de masse dû à la taille tumorale, ou parfois par l'apparition d'un cancer. Le gène responsable de la NEM 1 a été identifié sur le chromosome 11, locus 11q13. Il s'agit d'un gène supresseur de tumeur qui code pour une protéine dénommée ménine. Dans cet article nous aborderons les aspects cliniques et génétiques typiques de cette affection.

Disciplines :

Endocrinology, metabolism & nutrition

Author, co-author :

Betea, Daniela ; Université de Liège - ULiège > Endocrinologie clinique

Valdes Socin, Hernan Gonzalo ; Université de Liège - ULiège > Endocrinologie clinique

Vanbellinghen, Jean-François ; Université de Liège - ULiège > Centre de diagnostic moleculaire

Beckers, Albert ; Université de Liège - ULiège > Département des sciences cliniques > Endocrinologie

Language :

French

Title :

Néoplasie endocrinienne multiple de type 1 : De la clinique au gène

Publication date :

2003

Journal title :

Feuillets de Biologie

ISSN :

0428-2779

Publisher :

Orion, France

Volume :

Issue :

250

Pages :

39-48

Peer reviewed :

Peer reviewed

Available on ORBi :

since 17 May 2010

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