Wilson病診療ガイドライン 2015

1 1 Wilson 2015 2 Wilson Wilson WD Wilson 1912 100 1) 1960 WD WD Kayser, Fleischer WD 1950 Scheinberg WD WD 13 P ATPase ATP7B ATPase WD 4 40

2 2-9) 2003 2008 10-11) 2012 EU 12) WD WD 1 13) 3 Wilson WD 3 1 2008 137 3 14 2003 2008 2012

3 2011 Minds Minds 2007 15,) EASL Clinical Practice Guidelines 12) American Association for the Study of Liver Diseases (AASLD) 1 11) WD WD

4 4 I Wilson 1 2 3 Wilson 7 II Wilson III 1 2 3 4.

5 IV 1 2 Kayser-Fleischer 3 4 5 6 V ------------------------------ VI 1 2 3 4 VII VIII 1

6 2 3 4 5 (1) (2) 6 7 IX.

7 5 1 2 3 4 5 6 7 8 X XI 1 2 3 XII 1 2

8 XIII 6 I. WD ATP7B Copper transporting ATPase ATP7B COMMD1 WD ATP7B WD 1 (ceruloplasmin) C (cytochrome C oxidase ) ( lysyl oxidase ) (dopamine- -hydroxidase) (tyrosinase)

9 Cu/Zn (superoxide dismutase) 16) Menkes occipital horn 17) 18) 19) 1 23 1 20) Copper transporting ATPase (ATP7A) 12 71% 17) 2 21) 2 1 85 21) 1 90 7 5% 2.

10 2a CTR1 CCS2 COX17 ATOX1 (HAH1) Cu/Zn ATP7B Copper transporting ATPase 22) ATP7B N 6 8 3 ATP7B lysosome-associated protein 1 lamp 1 lamp 2 Rab7 Niemann-Pick C1 Protein 23-26) COMMD1 27) COMMD1 ATP7B 28) COMMD1 29) WD 3.