CLASSICAL TYPE OF FABRY DISEASE WITHOUT ANGIOKERATOMAS – A CASE REPORT
Autori:
Boris Kudumija, Mirando Mrsić, Sonja Dits, Vesna Matijević, Sigmund Thune, Ksenija Božina
Sažetak
Sažetak. U radu je prikazan bolesnik s klasičnim tipom Fabryjeve bolesti (FB). Uz opis simptoma prikazani su mogući ¬uzroci pojačavanja neuropatskih boli tijekom dijalize. Karakteristične promjene oblika glave i zglobova na prstima šaka dodatne su fenotipske karakteristike FB korisne u ciljanoj dijagnostici. Enzimsko nadomjesno liječenje, ako se primijeni u ranijoj fazi bolesti, može spriječiti razvoj komplikacija bolesti i prijevremenu smrt.
Summary
Summary. A patient with classical type of Fabry disease is described. The appearance and character of neuropathic pain during hemodyalisis is described. Characteristic changes in head shape and changes of hands and fingers are the additional phenotypic characteristics of Fabry disease. Enzyme replacement therapy administered in the early phase of the disease could prevent disease complications and early patient´s death.
