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Niemann-Pick-Krankheit Typ B im Erwachsenenalter: eine diagnostische Herausforderung

Niemann-Pick-Krankheit Typ B im Erwachsenenalter: eine diagnostische Herausforderung

          
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About the Book

Die Niemann-Pick-Krankheit Typ B (NP-B) oder der Mangel an saurer Sphingomyelinase (DSMA) ist eine autosomal-rezessiv vererbte lysosomale Speicherkrankheit, die durch eine Mutation im Sphingomyelin-Phosphodiesterase-1-Gen (SMPD1) ausgelöst wird. SMPDD ist für eine Anhäufung von Sphingomyelin in den Lysosomen sowie für Anomalien bei den Lipidbestandteilen der Zellmembranen verantwortlich. Klinisch werden drei Entitäten unterschieden, die mit DSMA einhergehen: die Niemann-Pick-Krankheit Typ A (NP-A), die eine frühe neuroviszerale Form darstellt, die Niemann-Pick-Krankheit Typ B, die eine chronische viszerale Form darstellt, und die Niemann-Pick-Krankheit Typ A/B (NP-A/B), die eine chronische neuroviszerale Form darstellt. Die NP-A-Krankheit ist durch eine schwere viszerale und neurodegenerative Schädigung gekennzeichnet, die in den ersten drei Lebensjahren progressiv verläuft und tödlich endet. Bei den B-Formen fehlt die neurologische Schädigung und das Alter des Krankheitsbeginns ist sehr unterschiedlich und kann im Erwachsenenalter auftreten. Das klinische Bild besteht häufig aus einer fast konstanten Hepatosplenomegalie, einer interstitiellen Pneumopathie, die in der Regel asymptomatisch ist oder sich in Form von


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Product Details
  • ISBN-13: 9786208161118
  • Publisher: KS Omniscriptum Publishing
  • Publisher Imprint: Verlag Unser Wissen
  • Height: 229 mm
  • No of Pages: 56
  • Spine Width: 3 mm
  • Weight: 95 gr
  • ISBN-10: 6208161118
  • Publisher Date: 08 Oct 2024
  • Binding: Paperback
  • Language: German
  • Returnable: N
  • Sub Title: eine diagnostische Herausforderung
  • Width: 152 mm


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Niemann-Pick-Krankheit Typ B im Erwachsenenalter: eine diagnostische Herausforderung
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Niemann-Pick-Krankheit Typ B im Erwachsenenalter: eine diagnostische Herausforderung
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