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Medizinische Klinik

, Volume 92, Issue 9, pp 528–533 | Cite as

Endokrinologische und metabolische Komplikationen des Alagille-Syndroms

  • Lorenz C. Hofbauer
  • Alicja Mrozek-Lasota
  • Tomas Jelinek
  • Hermann-Dieter Schworm
  • Donald Zimmermann
  • Armin E. Heufelder
Klinisch-Pathologische Konferenz

Zusammenfassung

□ Hintergrund

Patienten mit angeborenen oder in früher Kindheit erworbenen gastrointestinalen und hepatobiliären Erkrankungen haben ein hohes Risiko für diverse endokrinologische und metabolische Störungen.

□ Falldarstellung

Eine 27jährige Frau mit bekanntem Alagille-Syndrom stellte sich mit nach einer Operation und der Einnahme oraler Kontrazeptiva progredientem Ikterus und zunehmenden Gangstörungen vor. Bei der körperlichen Untersuchung fielen zudem ein Minderwuchs, faziale Dysmorphiezeichen sowie neuromuskuläre Symptome (Polyneuropathie, spinozerebelläre Ataxie) auf. Die Serumkonzentrationen des. Gesamtbilirubins (54 mg/dl) und der alkalischen Phosphatase waren deutlich erhöht, die Serumspiegel für Haptoglobin, Zink, Vitamin D und E erniedrigt. Trotz der wahrscheinlicheren prä- brw. intrahepatischen Ursachen für den Ikterusschub wurden aufgrund des prolongierten Verlaufs posthepatische Störungen mittels Sonographie und ERCP ausgeschlossen. Die Patientin wurde unter der Verdachtsdiagnose einer medikamentös bedingten akuten Cholestase hochdosiert mit fettlöslichen Vitaminen und Ursodesoxycholsäure behandelt, worunter sich die pathologischen Laborbefunde normalisierten und die neurologische Symptomatik sich deutlich besserte.

□ Schlußfolgerung

Am Beispiel einer Patientin mit dem seltenen Alagille-Syndrom zeigt diese Kasuistik die metabolischen und endokrinen Komplikationen bei chronischer Cholestase und deren Therapie.

Schlüsselwörter

Alagille-Syndrom Chronische Cholestase Metabolische Komplikationen Endokrinologische Störungen 

Endocrine and Metabolic Complications in Alagille’s Syndrome

Summary

□ Background

Patients with gastrointestinal and hepatobiliary disorders, either congenital or acquired early in childhood, are at high risk for various endocrine and metabolic abnormalities.

□ Case report

A 27-year-old woman with Alagille’s syndrome presented with progressive jaundice and gait disturbances following surgery and ingestion of oral contraceptives. On physical examination, short stature, facial dysmorphism and neuromuscular symptoms such as polyneuropathy and spinocerebellar ataxia were noted. Serum concentrations of total bilirubin (54 mg/dl) and alkaline phosphatase were markedly increased, whereas serum levels of haptoglobin, zinc, vitamin D and E were decreased. Although prehepatic or intrahepatic etiologies were ruled out by abdominal ultrasound and endoscopic retrograde etiologies of jaundice were more likely in this patient, posthepagrade cholandgio-pancreaticography. Based on a working diagnosis of acute drug-induced cholestasis, treatment with high doses of lipid-soluble vitamins and ursodeoxycholic acid was initiated. In response to therapy, her abnormal laboratory results normalized and her neurologic symptoms markedly improved.

□ Conclusion

This clinicopathological conference of a patient with Alagille’s syndrome illustrates the clinical presentation and therapy of metabolic and endocrine complications in chronic cholestasis.

Key words

Alagille’s syndrome Chronic cholestasis Metabolic complications Endocrine disturbances 

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Copyright information

© Urban & Vogel 1997

Authors and Affiliations

  • Lorenz C. Hofbauer
    • 1
  • Alicja Mrozek-Lasota
    • 1
  • Tomas Jelinek
    • 1
  • Hermann-Dieter Schworm
    • 2
  • Donald Zimmermann
    • 3
  • Armin E. Heufelder
    • 1
  1. 1.Medizinische KlinikKlinikum Innenstadt der UniversitätMünchen
  2. 2.AugenklinikKlinikum Innenstadt der Ludwig-Maximilians-Universität MünchenMünchenDeutschland
  3. 3.Department of PediatricsMavo ClinicUSA

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