Januari 2012
3
Inhoudsopgave
1
Introductie............................................................................................................................................4
1.1
Zorgpad...............................................................................................................................4
1.2
Samenwerking ....................................................................................................................4
1.3
Patiëntenvereniging............................................................................................................5
1.4
Leeswijzer ...........................................................................................................................5
2
Tyrosinemie type 1 ..............................................................................................................................6
2.1
Presentatie .........................................................................................................................6
2.2
Diagnose .............................................................................................................................8
2.3
De behandeling...................................................................................................................8
3
Begeleiding – Kinderen...................................................................................................................... 11
3.1
Patiënt en /of ouders ........................................................................................................12
3.2
Casemanager ....................................................................................................................12
3.3
Kinderarts metabole ziekten .............................................................................................12
3.4
Vaste medebehandelaren: diëtist .....................................................................................15
3.5
Vaste medebehandelaren: oogarts ...................................................................................16
3.6
Overige betrokken zorgverleners......................................................................................16
3.7
Overige aandachtspunten.................................................................................................17
3.8
Medicijnen ........................................................................................................................18
4
Begeleiding – Volwassenen............................................................................................................... 20
4.1
Patiënt ..............................................................................................................................21
4.2
Casemanager ....................................................................................................................21
4.3
Internist metabole ziekten................................................................................................21
4.4
Vaste medebehandelaren: diëtist .....................................................................................24
4.5
Vaste medebehandelaren: oogarts ...................................................................................24
4.6
Overige betrokken behandelaren .....................................................................................24
4.7
Overige aandachtspunten.................................................................................................25
4.8
Medicijnen ........................................................................................................................26
5
Kwaliteitsindicatoren ........................................................................................................................ 27
6
Consensus zorgpad Tyrosinemie....................................................................................................... 28
7
Disclaimer.......................................................................................................................................... 28