Anelli di Kayser-Fleische
Cosa sono gli anelli di Kayser-Fleische?
Gli anelli di Kayser-Fleische sono formazioni giallo-brunastre sul lembo sclero-corneale dovute al deposito di rame. Insorgono alla periferia della cornea, più precisamente a livello della membrana di Descemet. La loro presenza è un segno diagnostico della malattia di Wilson. Può essere presente anche in corso di malattie colestatiche croniche.
Anelli di Kayser-Fleische: diagnosi
Gli anelli di Kayser-Fleischer possono essere visibili all’esame con la lampada a fessura, strumento utilizzato in ambito oculistico, e, talvolta, anche a occhio nudo.
Anelli di Kayser-Fleischer: terapia
Gli anelli di Kayser-Fleischer sono curati in base alla malattia che è alla loro origine.
La malattia di Wilson è un disordine del metabolismo caratterizzato da accumulo tissutale di rame a trasmissione autosomica recessiva. E’ una malattia familiare ed ereditaria legata ad un disturbo del metabolismo del rame caratterizzato da lesione dei nuclei lenticolari con rigidità muscolare generalizzata, disartria, tremore e da cirrosi.La malattia di Wilson è diffusa in tutte le razze e in ogni area geografica.
Patogenesi
Il rame è un metallo essenziale per il funzionamento di vari enzimi con i quali agisce come cofattore. Viene assorbito nell’intestino e, dopo legame con l’albumina, tramite il circolo portale giunge al fegato, che lo immette nella circolazione generale dove viene veicolato dalla ceruloplasmina. La malattia di Wilson è un deficit della capacità degli epatociti di eliminare il rame attraverso la bile, per cui questo si accumula nel fegato inibendo la conversione di apoceruloplasmina in ceruloplasmina, cioè la forma attiva di tale proteina che è in grado di legare il rame. A causare la malattia di Wilson è un’alterazione del gene ATP7B, localizzato sul cromosoma 13
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