Zusammenfassung
Fallbeschreibung:
Eine 25-jährige, hypertone Patientin stellte sich mit seit 10 Tagen bestehenden und zunehmenden diffusen Schmerzen und Obstipation im Notfallzentrum vor. Sie war zuvor mehrfach ärztlich gesehen worden, ohne dass verschiedenste Analgetika sowie Metoclopramid zu einer Besserung geführt hatten. Laborchemisch fand sich eine Hyponatriämie. Ein Megakolon und eine Polyneuropathie wurden festgestellt, kurz nach Aufnahme kam es allerdings bei weiter zunehmender Hyponatriämie im Sinne eines SIADH (Syndrom der inadäquaten ADH-Sekretion) zu einem generalisierten Krampfanfall. Passend zur Klinik konnte im Urin eine massiv erhöhte Ausscheidung von Porphyrinen gemessen werden und damit, zusammen mit der deutlich erniedrigten Porphobilinogen-Desaminase-Aktivität, die Diagnose einer akuten intermittierenden Porphyrie gestellt werden.
Schlussfolgerung:
Der Fall illustriert, wie die Diagnose dieses Krankheitsbildes aufgrund seiner Seltenheit und unspezifischen Symptome leicht verschleppt wird, wobei die Gefahr besteht, durch Verordnung von auslösenden Medikamenten die Beschwerden noch zu verschlimmern.
Abstract
Case Report:
A 25-year-old hypertensive patient presented to the Emergency Department with constipation and diffuse pain which had been increasing for 10 days. She had consulted several doctors before, but neither various analgesics nor metoclopramide had been beneficial. Blood analysis showed hyponatremia. A megacolon and polyneuropathy were found. Shortly after admission, she developed generalized seizures while hyponatremia increased compatible with SIADH (syndrome of inadequate ADH secretion). Urine examination revealed a markedly elevated excretion of porphyrins. Since porphobilinogen deaminase activity was clearly decreased, diagnosis of acute intermittent porphyria could be confirmed.
Conclusion:
This case shows how definite diagnosis of this illness is often delayed because of its rarity and the variety of its possible symptoms and signs. This delay leads to a high risk of aggravating the disease by prescribing porphyrinogenic drugs.
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Lutz, P., Maring, D., Tschampa, H.J. et al. Eine 25-jährige Patientin mit Pseudoobstruktion des Kolons, Hyponatriämie, hypertensiver Entgleisung und diffusem Schmerzsyndrom. Med Klin 105, 267–272 (2010). https://doi.org/10.1007/s00063-010-1047-1
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DOI: https://doi.org/10.1007/s00063-010-1047-1