Januari 2012
3
Inhoudsopgave
1
Voorwoord ...........................................................................................................................................4
1.1
Expertise centrum...............................................................................................................4
1.2
Patiëntenvereniging............................................................................................................4
1.3
Leeswijzer ...........................................................................................................................5
2
Tyrosinemie 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 .....................................................................................14
3.5
Vaste medebehandelaren: oogarts ...................................................................................15
3.6
Overige betrokken zorgverleners......................................................................................15
4
Begeleiding – Volwassenen............................................................................................................... 18
4.1
Patiënt ..............................................................................................................................19
4.2
Casemanager ....................................................................................................................19
4.3
Internist Metabole Ziekten ...............................................................................................19
4.4
Vaste medebehandelaren: diëtist .....................................................................................22
4.5
Vaste medebehandelaren: oogarts ...................................................................................23
4.6
Overige betrokken zorgverleners......................................................................................23
5
Kwaliteitsindicatoren ........................................................................................................................ 25
6
Tyrosinemia Type 1 – Latest Evidence .............................................................................................. 26
6.1
Reference
List ...................................................................................................................29
7
Consensus Zorgpad Tyrosinemie....................................................................................................... 31
8
Disclaimer.......................................................................................................................................... 31