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Diagnostik des Morbus Wilson

Diagnostics of Wilson’s disease

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Zusammenfassung

Der Morbus Wilson ist eine seltene vererbte, aber behandelbare Stoffwechselerkrankung, die bei rechtzeitiger Diagnosestellung und suffizienter Therapie eine gute Prognose hat. In dieser Hinsicht sind die Kenntnis dieses seltenen Krankheitsbildes und seine sichere Diagnosestellung unabdingbar. Diese wird eingeleitet mit dem Stellen der Verdachtsdiagnose bei ungeklärter akuter oder chronischer Hepatopathie und/oder extrapyramidalmotorischen Störungen, welche meist zwischen dem 5. und 45. Lebensjahr auftreten. Gelegentlich wurden Manifestationen bereits vor dem 1. oder nach dem 70. Lebensjahr beobachtet. Obligat schließen sich daran sofort biochemische und genetische Untersuchungen zur Diagnosesicherung an. Weitere Untersuchungsmethoden wie Leber- und transkranielle Sonographie, zerebrale Magnetresonanztomographie (MRT) und 18F-Fluorodeoxyglukose(FDG)-Positronenemissionstomographie(PET), 123J-Beta-CIT- und 123J-Jodobenzamid(IBZM)-Single-Photonen-Emissions-Computertomographie(SPECT), Elektrophysiologie sowie feinmotorische Tests sind zwar unspezifisch, dienen jedoch der Erkennung von Organschäden und der Verlaufskontrolle. Auf der Grundlage einer bestätigten Diagnose ist der sofortige Therapiebeginn erforderlich und gerechtfertigt.

Abstract

Wilson’s disease is a rare genetic but treatable metabolic disorder which has a favorable prognosis when diagnosed early and treated adequately. Therefore, knowledge of this rare clinical condition and a reliable diagnosis are indispensable. The diagnostic work-up is initiated in cases of unexplained acute or chronic liver disease and/or an extrapyramidal motor disturbance occurring mostly between the 5th and 45th years of life. Manifestations with initial symptoms have occasionally been observed at an age younger than 1 year and later than 70 years. Immediate biochemical and genetic examinations for early diagnosis are essential. Further test methods, such as liver and transcranial sonography, cerebral magnetic resonance imaging (MRI) and 18F-fluorodeoxyglucose positron emission tomography (18F-FDG-PET), 123I-beta-CIT and 123I-iodobenzamide (IBZM) single photon emission computed tomography (SPECT), electrophysiology as well as fine motor tests are unspecific but can be used to test for organ damage and for monitoring of progress. Immediate initiation of a therapy is required and justified on the basis of a confirmed diagnosis.

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  1. Neurologie, SRO AG Langenthal, St. Urbanstraße 67, 4900, Langenthal, Schweiz

    W. Hermann

  2. Gastroenterologie und Onkologie, Diakonissenkrankenhaus Leipzig, Leipzig, Deutschland

    D. Huster

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Hermann, W., Huster, D. Diagnostik des Morbus Wilson. Nervenarzt 89, 115–123 (2018). https://doi.org/10.1007/s00115-017-0452-6

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