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Sensorisch-autonome Neuropathien und Natriumkanal-assoziierte Schmerzerkrankungen

Sensory and autonomic neuropathies and pain-related channelopathies

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Zusammenfassung

Ein Verlust von Sensibilität und Schmerzempfinden kann durch einen Entwicklungsdefekt, die Degeneration nozizeptiver Fasern oder eine veränderte neuronale Erregbarkeit verursacht werden. Eine sensorische Neurodegeneration findet sich insbesondere in der heterogenen Gruppe der hereditären sensorisch-autonomen Neuropathien (HSAN). Wesentliches Merkmal der HSAN ist die Neigung der Patienten zu schweren Verletzungen aufgrund der fehlenden Schutzfunktion von Schmerz. Klinisch ähnlich ist die angeborene Schmerzunempfindlichkeit. Sie wird primär durch eine veränderte Erregbarkeit nozizeptiver Fasern aufgrund von Mutationen in spannungsgesteuerten Natriumkanälen verursacht. Im Gegensatz zu HSAN besteht häufig keine Neurodegeneration. Ziel dieses Weiterbildungsbeitrags ist die Darstellung der Krankheitsbilder der HSAN sowie schmerzassoziierter Natriumkanalerkrankungen mit einem Schwerpunkt auf den zugrunde liegenden Pathomechanismen.

Abstract

Loss of pain perception can result from neurodevelopmental defects, degeneration of nociceptive fibers, or altered excitability of sensory neurons. Hereditary neurodegeneration leading to pain loss is classified as sensory and autonomic neuropathy (HSAN). Mutations in approximately 15 genes have been identified in the group of HSAN disorders. Hallmark of the disease is a liability to injury because of impaired acute pain as a warning system to prevent harm. The clinically overlapping “congenital insensitivity to pain (CIP)” is caused by mutations in voltage-gated sodium channels, which control the excitability of nociceptors. However, mutations in the latter genes can also result in disorders with increased pain susceptibility. This review summarizes the clinical presentation of HSAN and pain-related channelopathies and discusses the underlying disease mechanisms.

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  1. Institut für Humangenetik, Universitätsklinikum Jena, Kollegiengasse 10, 07743, Jena, Deutschland

    I. Kurth

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H. Göbel, Kiel

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Kurth, I. Sensorisch-autonome Neuropathien und Natriumkanal-assoziierte Schmerzerkrankungen. Schmerz 29, 445–457 (2015). https://doi.org/10.1007/s00482-015-0024-2

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