Maladies Métaboliques Dépistées Flashcards

1
Q

Mucoviscidose

A

1/4000
Aug concentration TIR ( trypsine immuno réactive)

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2
Q

Phénylcétonurie

A

1/17000
Aug C phenylalanine dans sang

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3
Q

Hydrothyroidie congenitale

A

1/3500
Aug de la TSH( thyréostimuline)

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4
Q

Hyperplasie congénitale des surrénales

A

1/19000
Aug de la 17-0H progesterone

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5
Q

Drépanocytose

A

HbS à la place de HbA ( mutation hematoglobine)

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