Mei 2012
3
Inhoudsopgave
1
Introductie............................................................................................................................................4
1.1
Zorgpad...............................................................................................................................4
1.2
Samenwerking ....................................................................................................................4
1.3
Patiëntenvereniging............................................................................................................5
1.4
Leeswijzer ...........................................................................................................................5
2
Midden-keten Acyl-CoA dehydrogenase Deficiëntie ...........................................................................6
2.1
Klachten bij presentatie en ontregeling ..............................................................................7
2.2
Diagnose .............................................................................................................................7
2.3
De behandeling...................................................................................................................8
3
Begeleiding – Kinderen...................................................................................................................... 10
3.1
Patiënt en ouders..............................................................................................................11
3.2
Casemanager ....................................................................................................................11
3.3
Kinderarts metabole ziekten .............................................................................................11
3.4
Vaste medebehandelaren: diëtist .....................................................................................14
3.5
Overige betrokken zorgverleners......................................................................................14
3.6
Overige aandachtspunten.................................................................................................15
4
Begeleiding – Volwassenen............................................................................................................... 17
4.1
Patiënt ..............................................................................................................................18
4.2
Casemanager ....................................................................................................................18
4.3
Internist Metabole Ziekten ...............................................................................................18
4.4
Vaste medebehandelaren: diëtist .....................................................................................19
4.5
Overige betrokken zorgverleners......................................................................................20
4.6
Overige aandachtspunten.................................................................................................21
5
Kwaliteitsindicatoren ........................................................................................................................ 22
6
Verklarende woordenlijst.................................................................................................................. 23
7
Consensus zorgpad Midden-keten Acyl-CoA dehydrogenase Deficiëntie...................................... 25
8
Disclaimer.......................................................................................................................................... 25