CRIBADO NEONATAL Flashcards

1
Q

Enfermedades cribadas en España

A

1.Fenilcetonuria
2. Deficit Acil-CoA de cadena media
3. Deficit Hidróxido-acil-CoA de cadena larga
4. Aciduria glutarica
5. Hipotiroidismo congenito
6. Fibrosis quística
7. Anemia falciforme

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2
Q

Fenilalanina elevada durante embarazo causa:

A

Embriofetopatia por fenilcetinuria (PKU)

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3
Q

Valores fenilcetonuria (Hiperfenilalanemia)

A

Mayores de 2,5 mg/dL

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4
Q

Tratamiento fenilcetonuria

A
  • Mantener niveles entre 2 y 6 mg (en adolescentes entre 2 y 10 mg)
  • En embarazo mantener a < 6 mg
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5
Q

Obtención muestra para cribado neonatal

A

Prueba del talon

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