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Malattia di Krabbe infantile by Ellouz, Emna

Malattia di Krabbe infantile

by Emna Ellouz , Imen Ketata
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Book cover type: Paperback
  • ISBN13: 9786207620357
  • Binding: Paperback
  • Subject: N/A
  • Publisher: Edizioni Sapienza
  • Publisher Imprint: Edizioni Sapienza
  • Publication Date:
  • Pages: 60
  • Original Price: GBP 37.0
  • Language: Italian
  • Edition: N/A
  • Item Weight: 100 grams
  • BISAC Subject(s): Sociology / General

La malattia di Krabbe (MK), descritta per la prima volta da Knud Krabbe nel 1916, è una leucodistrofia metabolica causata da un sovraccarico lisosomiale. È una rara malattia ereditaria autosomica recessiva. È causata da una mutazione nel gene GALC che determina una carenza dell'enzima GALC, che causa l'accumulo di PSY nei lisosomi. La MK presenta un ampio spettro fenotipico, con segni talvolta aspecifici che rendono difficile la diagnosi. La forma più classica è quella infantile precoce (MKIP). I sintomi principali comprendono segni generali aspecifici, ipotonia assiale, rigidità, difficoltà di alimentazione e ritardo nella crescita. La RMN cerebrale mostra una leucodistrofia demielinizzante periventricolare con aspetto tigroide. La diagnosi è confermata dal test enzimatico o dall'analisi genetica. Un trapianto di cellule staminali o di midollo osseo può migliorare la capacità funzionale e prolungare l'aspettativa di vita. Tuttavia, la MKIP rimane incurabile e il decesso avviene prima dei 2 anni di età.

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