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Doença de Krabbe infantil by Ellouz, Emna

Doença de Krabbe infantil

by Emna Ellouz , Imen Ketata
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Book cover type: Paperback
  • ISBN13: 9786207620333
  • Binding: Paperback
  • Subject: N/A
  • Publisher: Edicoes Nosso Conhecimento
  • Publisher Imprint: Edicoes Nosso Conhecimento
  • Publication Date:
  • Pages: 60
  • Original Price: GBP 37.0
  • Language: Portuguese
  • Edition: N/A
  • Item Weight: 100 grams
  • BISAC Subject(s): Sociology / General

A doença de Krabbe (MK), descrita pela primeira vez por Knud Krabbe em 1916, é uma leucodistrofia metabólica causada por uma sobrecarga lisossómica. Trata-se de uma doença hereditária autossómica recessiva rara. É causada por uma mutação no gene GALC que conduz a uma deficiência na enzima GALC, o que provoca a acumulação de PSY nos lisossomas. A MK apresenta um amplo espetro fenotípico, com sinais por vezes inespecíficos, o que dificulta o diagnóstico. A forma mais clássica é a forma infantil precoce (MKIP). Os principais sintomas incluem sinais gerais inespecíficos, hipotonia axial, rigidez, dificuldades de alimentação e atraso no crescimento. A RMN cerebral mostra uma leucodistrofia desmielinizante periventricular com um aspeto tigrado. O diagnóstico é confirmado por um ensaio enzimático ou por uma análise genética. Um transplante de células estaminais ou de medula óssea pode melhorar a capacidade funcional e prolongar a esperança de vida. No entanto, a MKIP permanece incurável, com a morte a ocorrer antes dos 2 anos de idade.

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