Differenzialdiagnose des Morbus Wilson

Zusammenfassung

Nach dem Stellen der Verdachtsdiagnose Morbus Wilson gilt es, diese zu bestätigen. Bis zum eindeutigen Nachweis bzw. bei Ausschluss einer autosomal-rezessiven Störung des hepatischen Kupfertransporters ATP 7B sind Differenzialdiagnosen anhand der vorliegenden Befunde zu prüfen. Laborchemische Parameter des Kupferstoffwechsels weisen außer auf nicht relevante Normabweichungen auch auf andere Störungen im Kupferstoffwechsel hin.

Neben bekannten Erkrankungen wie den Morbus Menkes, das Occipital Horn Syndrom (OHS), die Indian childhood cirrhosis (ICC) und den Coeruloplasminmangel werden neu entdeckte Störungen berücksichtigt. Dazu gehören das MEDNIK-Syndrom, das Huppke-Brendel-Syndrom und der Chaperonmangel CCS. Einen weiteren Schwerpunkt stellen alterskorrelierte Differenzialdiagnosen des kindlichen Ikterus und der Anämie sowie extrapyramidalmotorischer Bewegungsstörun-gen dar. Der Kayser-Fleischer-Kornealring wird als klassische ophthalmologische Manifestation relativiert. Mit der neu beschriebenen Manganspeichererkrankung besteht eine weitere seltene Metallstoffwechselstörung, die eine dem Morbus Wilson ähnliche Symptomatik hat.

Wie diese Übersicht zeigt, ordnet sich der Morbus Wilson in ein weites Spektrum internistischer und neurologischer Krankheitsbilder mit Ikterus, Anämie und EPS ein. Auch neu entdeckte Krankheitsbilder des Mangan- und Kupferstoffwechsels sind relevant.

Summary

After a tentative diagnosis of Wilson’s disease has been made it has to be confirmed. Until the unequivocal proof or the exclusion of an autosomal recessive disorder of the hepatitis copper transporter ATP 7B differential diagnoses have to be examined based on the existing findings. Laboratory-chemical parameters of the copper metabolism, except for irrelevant deviations from the normal value, point to other disorders in the copper metabolism.

In addition to known diseases like Menkes syndrome, occipital horn syndrome (OHS), Indian childhood cirrhosis (ICC) and coeruloplasmin deficiency newly discovered disorders are taken into account. These include the MEDNIK-syndrome, the Huppke-Brendelsyndrome and chaperone deficiency CCS. Another main focus is on differential diagnoses of childhood icterus correlated with age and anemia as well as disorders of the extrapyramidal motor system. The Kayser-Fleischer ring is relativized as classical ophthalmological manifestation. With the recently described manganese storage disorder there is an additional metabolism disorder which shows symptoms similar to Wilson’s disease.

As this overview shows, Wilson’s disease fits into a broad spectrum of internal and neurological disease pattern with icterus, anemia and EPS. Newly discovered clinical pictures of the manganese and copper metabolism are also relevant.

Schlüsselwörter

Morbus Wilson - Kupferstoffwechsel - ATPasen - Ikterus - Bewegungsstörungen

Keywords

Wilson’s disease - copper metabolism - ATPases - icterus - movement disorders

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