Genetische Diarrhö bei mukosalen Enzym- und Transportproteindefekten

Zusammenfassung

Neben hereditären Mukosastrukturdefekten können auch genetische Störungen der Enzymaktivität oder der Transportfunktion von Darmepithelmembranen eine chronische Diarrhö verursachen. Für die meisten hier beschriebenen funktionellen Defekte konnten bereits Genmutationen identifiziert werden. Klinisch verursachen sie entweder eine osmotische oder sekretorische Diarrhö. Die Abklärung erfordert eine genaue Familien- und Ernährungsanamnese sowie eine gezielte biochemische und molekularbiologische Diagnostikvon Blut- und Stuhlproben. Sehr hilfreich für die klinische Praxis ist die H₂-Messung im Atemgas zur Evaluation von Mono- und Disaccharidresorptionsstörungen. Um die Pathogenese aufklären zu können, sind in spezialisierten Zentren Verfahren wie in situ-Hybridiserung zur zellulären Lokalisation von Gensonden, Studien des zellulären Transports mit radioaktiv markierten Tracern und elektrophysiologische Methoden an Darmschleimhautbioptaten von großem Wert. Therapeutisch lässt sich die klinische Symptomatik oft durch Vermeidung der krank machenden Noxe oder umgekehrt, durch Gabe eines fehlenden Substrats soweit kontrollieren, dass eine langzeitparenterale Ernährung nicht mehr notwendig ist.

Summary

Besides hereditary structural defects also genetic disorders of enzyme activity or transport function in gut epithelial membranes may cause a chronic diarrhoea. Gene mutations have been identified in most of the functional defects described here. The clinical course is characterized by either osmotic or secretory diarrhoea. Evaluation affords a concise history of familial diseases and dietary habits as well as targeted biochemical and molecular biologic investigations in blood and fecal specimen. Very helpful for clinical practice are hydrogen breath tests in the evaluation of absorption defects of mono- and disaccharides. For the elucidation of the immanent pathogenesis specialized centers apply methods such as in situ hybridization for the cellular localization of marker probes, studies of cellular transport using radioactive tracers and electrophysiological measurements in gut biopsies. As for treatment, clinical symptoms may be controlled in many cases by avoiding the etiologic agent or on the opposite substituting a missing nutritional substrate so that often long term parenteral nutrition will be unnecessary.

Schlüsselwörter

Genetische Diarrhö - Enzymdefekte - Transportstörungen

Keywords

Genetic diarrhoea - enzyme defects - transport disorders

• Literatur

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