Oktober 2012
3
Inhoudsopgave
1
Introductie............................................................................................................................................4
1.1
Zorgpad...............................................................................................................................4
1.2
Samenwerking ....................................................................................................................4
1.3
Patiëntenvereniging............................................................................................................5
1.4
Leeswijzer ...........................................................................................................................5
2
Citrullinemie type 1 ..............................................................................................................................6
2.1
Klachten bij presentatie en ontregeling ..............................................................................7
2.2
Diagnose .............................................................................................................................7
2.3
De behandeling...................................................................................................................8
3
Begeleiding – Kinderen...................................................................................................................... 12
3.1
Patiënt en ouders..............................................................................................................13
3.2
Casemanager ....................................................................................................................13
3.3
Kinderarts metabole ziekten .............................................................................................13
3.4
Vaste medebehandelaren: diëtist .....................................................................................16
3.5
Overige betrokken zorgverleners......................................................................................17
3.6
Overige aandachtspunten.................................................................................................18
4
Begeleiding – Volwassenen............................................................................................................... 20
4.1
Patiënt ..............................................................................................................................21
4.2
Casemanager ....................................................................................................................21
4.3
Internist metabole ziekten................................................................................................21
4.4
Vaste medebehandelaren: diëtist .....................................................................................23
4.5
Overige betrokken zorgverleners......................................................................................24
4.6
Overige aandachtspunten.................................................................................................25
5
Kwaliteitsindicatoren ........................................................................................................................ 26
6
Verklarende woordenlijst.................................................................................................................. 27
7
Consensus zorgpad Citrullinemie type 1.......................................................................................... 29
8
Disclaimer.......................................................................................................................................... 29