December 2011
3
Inhoudsopgave
1
Voorwoord ...........................................................................................................................................4
1.1
Expertise centrum...............................................................................................................4
1.2
Patiëntenvereniging............................................................................................................4
1.3
Leeswijzer ...........................................................................................................................5
2
Glycogeen Stapelingsziekte type 1......................................................................................................6
2.1
Presentatie .........................................................................................................................6
2.2
Diagnostiek .........................................................................................................................6
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 .....................................................................................17
3.5
Overige betrokken zorgverleners......................................................................................18
4
Begeleiding – Volwassenen............................................................................................................... 20
4.1
Patiënt ..............................................................................................................................21
4.2
Casemanager ....................................................................................................................21
4.3
Internist metabole ziekten................................................................................................21
4.4
Vaste medebehandelaren: diëtist .....................................................................................27
4.5
Overige betrokken zorgverleners......................................................................................28
5
Kwaliteitsindicatoren........................................................................................................................ 30
6
Glycogen Storage Disease type 1 – Latest Evidence ......................................................................... 31
6.1
Reference List ...................................................................................................................34
7
Consensus zorgpad Glycogeen Stapelingsziekte type 1.................................................................... 35
8
Disclaimer.......................................................................................................................................... 35