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Infantile Krabbe-Krankheit by Ellouz, Emna

Infantile Krabbe-Krankheit

by Emna Ellouz , Imen Ketata
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Book cover type: Paperback
  • ISBN13: 9786207620319
  • Binding: Paperback
  • Subject: N/A
  • Publisher: Verlag Unser Wissen
  • Publisher Imprint: Verlag Unser Wissen
  • Publication Date:
  • Pages: 64
  • Original Price: GBP 37.0
  • Language: German
  • Edition: N/A
  • Item Weight: 105 grams
  • BISAC Subject(s): Sociology / General

Die Krabbe-Krankheit (KK), die erstmals 1916 von Knud Krabbe beschrieben wurde, ist eine metabolische Leukodystrophie, die durch eine lysosomale Überladung verursacht wird. Es handelt sich um eine seltene Erbkrankheit, die autosomal-rezessiv vererbt wird. Sie wird durch eine Mutation im GALC-Gen verursacht, die zu einem Mangel des GALC-Enzyms führt, wodurch sich PSY in den Lysosomen ansammelt. Die MK weist ein breites phänotypisches Spektrum mit manchmal unspezifischen Anzeichen auf, was die Diagnose schwierig macht. Die klassischste Form ist die frühkindliche Form (MKIP). Zu den Hauptsymptomen gehören unspezifische allgemeine Anzeichen, axiale Hypotonie, Steifheit, Fütterungsschwierigkeiten und Wachstumsverzögerung. Die Kernspintomographie des Gehirns zeigt eine periventrikuläre demyelinisierende Leukodystrophie mit tigroidem Aussehen. Die Diagnose wird durch Enzymtests oder genetische Analysen bestätigt. Eine Stammzell- oder Knochenmarktransplantation kann die Funktionsfähigkeit verbessern und die Lebenserwartung verlängern. MKIP bleibt jedoch unheilbar, wobei der Tod vor dem 2.

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