Boala Wilson

(Degenerescenta hepato-lenticulara)

AR – crs 13q14.3 9gena ATP 7B

- cerulopasmina < 200 mg/dL

- creste Cu : Cu liber in ser > 15 microg/dL = CuT in ser (< 12 microg/dL) –
cerulopasmina in ser (mg/dL)
- Cu urina 100 microg/zi
- Cu hepatic > 250 microg/g greutate uscata

Clinica
- hepatic, renal
- ocular (inel Kaiser-Fleischer)
- cerebral – sdr. akineto-hiperton, tremor, distonie
– semne piramidale, dizartrie, disfagie
– semne cerebeloase
– semne psihiatrice

Tratament
- cresterea eliminarii renale a Cu – D-penicilamina 500 mg/zi + vit B6 25 mg/zi + PDN
20 mg/zi (2 sapt)
– Trietine 600 mg x 3 /zi
– Dimercaptol
- scaderea absCu – Acetat de Zn – 50 mg/zi
mobilizarea Cu din sp. intracel = scaderea abs – Tetrathiomolybdat 30 mg x 3/zi
(experimental)