Hielprik Flashcards

1
Q

PKU

A

Opstapeling PHE
Mentale retardatie
Autosomaal recessief

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2
Q

Congenitale hypothyreoidie

A

Laag TSH, T4
Obstipatie, sufheid, hypotonie, palpabele achterste fontanel
Meest frequente oorzaak mentale retardatie

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3
Q

Sikkelcelziekte

A

Pijncrise door ifarcten

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4
Q

CF

A

Mutatie CFTR gen chromosoom 7

Recidiverende pneumonieen, taai mucus, chronische ondervoeding

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5
Q

SCID

A

Binnenkort toegevoegd
Geen functionele T-cellen
Ernstige oppertunistische infecties

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6
Q

Hielprik na .. uur

A

72-168 uur

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