November 2011
3
Inhoudsopgave
1
Introductie............................................................................................................................................4
1.1
Zorgpad...............................................................................................................................4
1.2
Samenwerking ....................................................................................................................4
1.3
Patiëntenverenigingen........................................................................................................5
1.4
Leeswijzer ...........................................................................................................................5
2
Klassieke galactosemie.........................................................................................................................6
2.1
Presentatie .........................................................................................................................6
2.2
Diagnose .............................................................................................................................7
2.3
Behandeling ........................................................................................................................7
3
Begeleiding – Kinderen.........................................................................................................................9
3.1
Patiënt en ouders..............................................................................................................10
3.2
Casemanager ....................................................................................................................10
3.3
Kinderarts metabole ziekten .............................................................................................10
3.4
Vaste medebehandelaren: diëtist .....................................................................................12
3.5
Vaste medebehandelaren: kinderendocrinoloog ..............................................................13
3.6
Vaste medebehandelaren: logopedist ..............................................................................13
3.7
Vaste medebehandelaren: kinderpsycholoog ...................................................................13
3.8
Vaste medebehandelaren: oogarts ...................................................................................14
3.9
Overige betrokken zorgverleners......................................................................................14
3.10
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 .....................................................................................21
4.5
Vaste medebehandelaren : gynaecoloog ..........................................................................21
4.6
Overige betrokken zorgverleners......................................................................................21
4.7
Overige aandachtspunten.................................................................................................22
5
Kwaliteitsindicatoren ........................................................................................................................ 24
6
Consensus zorgpad klassieke galactosemie..................................................................................... 25
7
Disclaimer.......................................................................................................................................... 25