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07.01.2021 | Ikterus | CME

Neonatale Cholestase

Hintergrund, Diagnostik und Therapie

verfasst von: Dr. med. Eberhard Lurz, Philip Bufler

Erschienen in: Monatsschrift Kinderheilkunde | Ausgabe 3/2021

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Zusammenfassung

Die neonatale Cholestase (NC) ist insgesamt selten, kann jedoch aufgrund teils lebensbedrohlicher Grunderkrankungen mit erheblicher Morbidität bis hin zum Leberversagen einhergehen. Die NC ist definiert durch eine Konzentrationserhöhung der Gallensäuren oder des direkten Bilirubins und ist immer pathologisch. Zur Abklärung der direkten Hyperbilirubinämie des Neugeborenen oder jungen Säuglings ist es essenziell, dringlich zu behandelnde Erkrankungen, u. a. „The Big Five“ (Infektion, Hypothyreose, Gallengangatresie, Galaktosämie und Tyrosinämie), rasch auszuschließen. Die initial oftmals kritische Situation wird am Beitragsbeginn an einem Fallbeispiel demonstriert. Im zweiten Teil werden die verschiedenen Aspekte der Diagnostik mit besonderem Fokus auf molekulargenetische Untersuchungen sowie die Therapieoptionen behandelt. In tabellarischen Zusammenfassungen gibt dieser Beitrag einen raschen Überblick über die klinisch relevanten Abläufe und Differenzialdiagnosen der NC-Syndrome.

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Titel: Neonatale Cholestase
Hintergrund, Diagnostik und Therapie
verfasst von: Dr. med. Eberhard Lurz
Philip Bufler
Publikationsdatum: 07.01.2021
Verlag: Springer Medizin
Schlagwörter: Ikterus
Galaktosämie
Hypothyreose
Erschienen in: Monatsschrift Kinderheilkunde / Ausgabe 3/2021
Print ISSN: 0026-9298
Elektronische ISSN: 1433-0474
DOI: https://doi.org/10.1007/s00112-020-01042-3

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