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endocrinologie > Pathologie génétique > Flashcards

Pathologie génétique Flashcards

1
Q

NEM1

A

Hyperparathyroidie primaire
Tumeur endocrine pancréatique (insulinome, gastrinome)
Adénome hypophysaire

  • gène MEN1 codant pour ménine
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2
Q

NEM2

A

Cancer médulaire thyroïde
Phéochromocytome

2a: hyperparathyroidie primaire
2b: aspect marfanoïde, névrome sous-muqueux, ganglioneuromatose dig

  • proto-oncogène RET
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3
Q

PEA type 1

A

Hypoparathyroïdie
Candidose
ISR

  • AR, mutation facteur transcription AIRE
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4
Q

PEA type 2

A

Syndrome de Schmidt

ISR + Thyroïdite de Hashimoto ou Maladie de Basedow ou Diabète de type 1
+/- myasthénie, vitiligo, gastrite auto-immune, maladie Biermer, alopécie

  • AD, plus fréquent
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endocrinologie (3 decks)

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