Pagina 3 - Zorgpad Klassieke galactosemie professionals

November 2011 3
Inhoudsopgave
1 Voorwoord ...........................................................................................................................................4
1.1 Expertise centrum .............................................................................................................4
1.2 Patiëntenverenigingen ......................................................................................................5
1.3 Leeswijzer..........................................................................................................................5
2 Klassieke Galactosemie ........................................................................................................................6
2.1 Presentatie ........................................................................................................................6
2.2 Diagnostiek........................................................................................................................6
2.3 Behandeling.......................................................................................................................6
3 Begeleiding – Kinderen.........................................................................................................................7
3.1 Patiënt en/of ouders .........................................................................................................8
3.2 Casemanager .....................................................................................................................8
3.3 Kinderarts Metabole Ziekten .............................................................................................8
3.4 Vaste medebehandelaren: diëtist....................................................................................11
3.5 Vaste medebehandelaren: kinderendocrinoloog.............................................................12
3.6 Vaste medebehandelaren: logopedist .............................................................................12
3.7 Vaste medebehandelaren: kinderpsycholoog..................................................................12
3.8 Vaste medebehandelaren: oogarts..................................................................................13
3.9 Overige betrokken zorgverleners ....................................................................................13
4 Begeleiding – Volwassenen............................................................................................................... 15
4.1 Patiënt .............................................................................................................................16
4.2 Casemanager ...................................................................................................................16
4.3 Internist Metabole Ziekten ..............................................................................................16
4.4 Vaste medebehandelaren: diëtist....................................................................................18
4.5 Overige betrokken zorgverleners ....................................................................................19
5 Kwaliteitsindicatoren ........................................................................................................................ 21
6 Classical galactosemia – Latest Evidence .......................................................................................... 22
6.1 Reference List ..................................................................................................................24
7 Consensus zorgpad Klassieke Galactosemie ..................................................................................... 26
8 Disclaimer.......................................................................................................................................... 26