November 2011
3
Inhoudsopgave
1
Introductie............................................................................................................................................4
1.1
Zorgpad...............................................................................................................................4
1.2
Samenwerking ....................................................................................................................4
1.3
Patiëntenverenigingen........................................................................................................5
1.4
Leeswijzer ...........................................................................................................................5
2
Ziekte van Niemann-Pick type C...........................................................................................................6
2.1
Presentatie .........................................................................................................................6
2.2
Diagnose .............................................................................................................................8
2.3
Behandeling ........................................................................................................................9
3
Begeleiding – Kinderen...................................................................................................................... 11
3.1
Patiënt en/of ouders.........................................................................................................12
3.2
Casemanager ....................................................................................................................12
3.3
Kinderarts Metabole Ziekten of (Kinder)Neuroloog ..........................................................12
3.4
Overige betrokken zorgverleners......................................................................................16
3.5
Medicijnen ........................................................................................................................17
3.6
Overige aandachtspunten.................................................................................................17
4
Begeleiding – Volwassenen............................................................................................................... 19
4.1
Patiënt ..............................................................................................................................20
4.2
Casemanager ....................................................................................................................20
4.3
Internist Metabole Ziekten of Neuroloog..........................................................................20
4.4
Overige betrokken zorgverleners......................................................................................24
4.5
Medicijnen ........................................................................................................................25
4.6
Overige aandachtspunten.................................................................................................25
5
Kwaliteitsindicatoren ........................................................................................................................ 27
6
Consensus zorgpad ‘ziekte van Niemann-Pick type C’ ...................................................................... 28
7
Disclaimer.......................................................................................................................................... 28