December 2011
3
Inhoudsopgave
1
Introductie ...........................................................................................................................................4
1.1
Zorgpad...............................................................................................................................4
1.2
Samenwerking ....................................................................................................................4
1.3
Patiëntenvereniging............................................................................................................5
1.4
Leeswijzer ...........................................................................................................................5
2
Glycogeen Stapelingsziekte type 3.......................................................................................................6
2.1
Presentatie .........................................................................................................................7
2.2
Diagnose .............................................................................................................................7
2.3
Behandeling ........................................................................................................................8
3
Begeleiding – Kinderen...................................................................................................................... 10
3.1
Patiënt en/of ouders.........................................................................................................11
3.2
Casemanager ....................................................................................................................11
3.3
Kinderarts metabole ziekten .............................................................................................11
3.4
Vaste medebehandelaren: diëtist .....................................................................................14
3.5
Overige betrokken behandelaren .....................................................................................16
3.6
Overige aandachtspunten.................................................................................................17
4
Begeleiding – Volwassenen .............................................................................................................. 19
4.1
Patiënt ..............................................................................................................................20
4.2
Casemanager ....................................................................................................................20
4.3
Internist Metabole Ziekten ...............................................................................................20
4.4
Vaste medebehandelaren: diëtist .....................................................................................23
4.5
Overige betrokken behandelaren .....................................................................................24
4.6
Overige aandachtspunten.................................................................................................25
5
Kwaliteitsindicatoren ........................................................................................................................ 27
6
Consensus zorgpad Glycogeen Stapelingsziekte type 3.................................................................... 28
7
Disclaimer.......................................................................................................................................... 28