Oktober 2012
3
Inhoudsopgave
1
Introductie............................................................................................................................................4
1.1
Zorgpad...............................................................................................................................4
1.2
Samenwerking ....................................................................................................................4
1.3
Patiëntenvereniging............................................................................................................5
1.4
Leeswijzer ...........................................................................................................................5
2
Ornithine Transcarbamoylase Deficiëntie............................................................................................6
2.1
Presentatie .........................................................................................................................7
2.2
Diagnose .............................................................................................................................8
2.3
Behandeling ........................................................................................................................8
3
Begeleiding – Kinderen...................................................................................................................... 13
3.1
Patiënt en ouders..............................................................................................................14
3.2
Casemanager ....................................................................................................................14
3.3
Kinderarts metabole ziekten .............................................................................................14
3.4
Vaste medebehandelaren: diëtist .....................................................................................17
3.5
Overige betrokken zorgverleners......................................................................................18
3.6
Overige aandachtspunten.................................................................................................19
4
Begeleiding – Volwassenen............................................................................................................... 21
4.1
Patiënt ..............................................................................................................................22
4.2
Casemanager ....................................................................................................................22
4.3
Internist metabole ziekten................................................................................................22
4.4
Vaste medebehandelaren: diëtist .....................................................................................24
4.5
Overige betrokken zorgverleners......................................................................................25
4.6
Overige aandachtspunten.................................................................................................26
5
Kwaliteitsindicatoren ........................................................................................................................ 28
6
Verklarende woordenlijst.................................................................................................................. 29
7
Consensus zorgpad Ornithine Transcarbamoylase Deficiëntie....................................................... 31
8
Disclaimer.......................................................................................................................................... 31