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DIU Neuro > CDG syndrome > Flashcards

CDG syndrome Flashcards

1
Q

CDG syndrome : anomalie à quelle étape

A

Glycosylation des protéines

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1
Q

CDG syndrome : quel organelle atteint

A

Golgi ou RE

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2
Q

Diagnostic CDG syndrome

A

Electrophorèse de la transferrine

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3
Q

CDG syndrome le plus fréquent

A

PMM2 CDG

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4
Q

si hémorragie dans CDG : quelle PEC

A

PFC
Acclotine (AT3)
plutot que facteurs pro coagulants

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5
Q

Coagulation et CDG

A

Hémorragique (baisse facteur XI, XII)
et thrombogène (baisse anti-thrombine, protéine C, S)

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6
Q

CDG syndrome avec traitement : quel CDG et quel ttt

A

MP1 CdG
Traitement par mannose

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7
Q

MP1 CDG : clinique

A

avant 2 ans
Entéropathie exsudative
Coagulopathie, thromboses ++
foie : cytolyse, fibrose
hyperinsulinisme
Peu/pas d’atteinte neuro

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8
Q

CDG syndrome le plus fréquent

A

PMM2

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DIU Neuro (20 decks)

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