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 1.......................................................................................................6
2.1
Presentatie .........................................................................................................................7
2.2
Diagnose .............................................................................................................................8
2.3
Behandeling ........................................................................................................................8
3
Begeleiding – Kinderen...................................................................................................................... 12
3.1
Patiënt en/of ouders.........................................................................................................13
3.2
Casemanager ....................................................................................................................13
3.3
Kinderarts metabole ziekten .............................................................................................13
3.4
Vaste medebehandelaren: diëtist .....................................................................................18
3.5
Overige betrokken zorgverleners......................................................................................20
3.6
Overige aandachtspunten.................................................................................................21
4
Begeleiding – Volwassenen .............................................................................................................. 23
4.1
Patiënt ..............................................................................................................................24
4.2
Casemanager ....................................................................................................................24
4.3
Internist Metabole Ziekten ...............................................................................................24
4.4
Vaste medebehandelaren: diëtist .....................................................................................29
4.5
Overige betrokken zorgverleners......................................................................................30
4.6
Overige aandachtspunten.................................................................................................31
5
Kwaliteitsindicatoren ........................................................................................................................ 33
6
Consensus zorgpad glycogeen stapelingsziekte type 1..................................................................... 34
7
Disclaimer.......................................................................................................................................... 34