Januari 2012
3
Inhoudsopgave
1
Introductie............................................................................................................................................4
1.1
Zorgpad...............................................................................................................................4
1.2
Samenwerking ....................................................................................................................4
1.3
Patiëntenverenigingen........................................................................................................5
1.4
Leeswijzer ...........................................................................................................................5
2
Phenylketonurie ...................................................................................................................................6
2.1
Presentatie .........................................................................................................................6
2.2
Diagnose .............................................................................................................................7
2.3
Behandeling ........................................................................................................................7
3
Begeleiding – Kinderen.........................................................................................................................9
3.1
Patiënt en/of ouders.........................................................................................................10
3.2
Casemanager ....................................................................................................................10
3.3
Kinderarts metabole ziekten .............................................................................................10
3.4
Vaste medebehandelaren: diëtist .....................................................................................13
3.5
Overige betrokken zorgverleners......................................................................................14
3.6
Overige aandachtspunten.................................................................................................15
4
Begeleiding – Volwassenen............................................................................................................... 17
4.1
Patiënt ..............................................................................................................................18
4.2
Casemanager ....................................................................................................................18
4.3
Internist metabole ziekten................................................................................................18
4.4
Vaste medebehandelaren: diëtist .....................................................................................20
4.5
Overige betrokken zorgverleners......................................................................................21
4.6
Overige aandachtspunten.................................................................................................22
5
Kwaliteitsindicatoren ........................................................................................................................ 24
6
Consensus zorgpad Phenylketonurie ................................................................................................ 25
7
Disclaimer.......................................................................................................................................... 25