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Autres > Maladie De fabry > Flashcards

Maladie De fabry Flashcards

0
Q

Clinique maladie de Fabry

A 
NEURO : douleurs chroniques +++, AVC..
REIN : protéinurie, IRn 
❤️ : IC, arythmie
Dermato : angiokeratome, anhidrose, hypohidrose
Oreille et œil
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1
Q

Physiopathologie maladie Fabry

A

Surcharge lysosomale car déficit en alphaglucosidase A

Transmission liée à X

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2
Q

Diagnostic prénatal maladie de Fabry

A

Que pour fœtus

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3
Q

Tt maladie Fabry

A

Enzymotherapie spécifique par agalsidase Alpha ou bêta

Indique chez

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Autres (9 decks)

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