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Zur Diagnostik der akuten intermittierenden Porphyrie: Ergebnisse neurologischer, biochemischer und genetischer Untersuchungen

Diagnosis of acute intermittent porphyria: Results of neurological, biochemical, and genetic studies

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Summary

Neurological and biochemical studies have been performed on four AIP families with 21 members. Five patients suffered from manifested AIP (Uroporphyrinogen Synthase defect and characteristic urine findings); among their relatives five persons with latent AIP were detected and eight carriers of the genetic-enzymic defect (Uroporphyrinogen Synthase defect). Internal and neurological symptoms could be interpreted as a panneuropathy. Acute and chronical polyneuropathies could be observed as well as myelopathies and cerebral co-reactions. A frequent symptom dominating the crisis and the latent state of AIP were etiologically abscure ‘myalgias.’ The character of the course of AIP is various and dubious: beyond the ‘classical’ courses with its intermittent porphyric crises we observed one case which was characterized by a permanent crisis and a second case marked by a chronical, slow progredient course without any porphyric attacks.

Zusammenfassung

An vier AIP-Familien mit 21 Mitgliedern führten wir neurologisch klinische und biochemische Untersuchungen durch. Fünf Patienten litten an manifester AIP (Uroporphyrinogen-Synthase-Defekt und charakteristische Urinbefunde), unter ihren Angehörigen fanden wir fünf Personen mit latenter AIP und acht Träger des genetisch-enzymatischen Defektes (Uroporphyrinogen-Synthase-Defekt). Internistische und neurologische Symptome konnten i. S. einer Panneuropathie gedeutet werden. Neben akuten und chronischen Polyneuropathien sahen wir auch Myelopathien und encephale Mitreaktionen. Ein häufiges Symptom der Krise und Latenzphase waren ätiologisch unklare Myalgien. Die AIP-Verlaufsform ist unterschiedlich: neben sog. „klassischen“ Verläufen mit intermittierenden porphyrischen Krisen sahen wir einen Fall, der durch eine permanente Krisensituation gekennzeichnet war, und einen zweiten Fall, der sich durch einen langsam chronisch-progredienten Verlauf ohne jegliche porphyrische Krise auszeichnete.

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Authors and Affiliations

  1. Neurologische Universitätsklinik Hamburg, Universitätskrankenhaus Eppendorf, Martinistr. 52, D-2000, Hamburg 20, Bundesrepublik Deutschland

    K. -F. Leonhardt & R. v. Tiepermann

  2. Fach Klinische Biochemie, Universitätsklinikum Marburg, Pilgrimstein 2, D-3550, Marburg/Lahn 1, Bundesrepublik Deutschland

    M. Doss

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  1. K. -F. Leonhardt
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  2. R. v. Tiepermann
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  3. M. Doss
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Leonhardt, K.F., v. Tiepermann, R. & Doss, M. Zur Diagnostik der akuten intermittierenden Porphyrie: Ergebnisse neurologischer, biochemischer und genetischer Untersuchungen. J Neurol. 218, 107–123 (1978). https://doi.org/10.1007/BF02402171

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