Gastroparese bei Noonan-Syndrom

Zusammenfassung

Wir berichten über eine 26-jährige Patientin, welche sich aufgrund eines verstärkten Völlegefühls, postprandialer Übelkeit und wiederholtem schwallartigen Erbrechen nach fester Nahrungsaufnahme in unserer gastroenterologischen Ambulanz vorstellte. In der Magenentleerungsszintigrafie zeigte sich eine verzögerte Magenentleerung im Sinne einer Gastroparese. Bei Kleinwuchs und vorbekannter Pulmonalklappenstenose wurde eine genetische Beratung initiiert und die Diagnose eines Noonan-Syndroms gestellt. Eine diätetische Therapie sowie eine Medikation mit Domperidon führten rasch zu einer Symptomlinderung. Prokinetika sind jedoch nicht zur Langzeittherapie von Magenmotilitätsstörungen zugelassen, da u. a. Herzrhythmusstörungen auftreten können. Hier muss eine kritische Nutzen-Risiko-Abwägung erfolgen. Die Wirksamkeit anderer therapeutischer Ansätze muss weiter eruiert werden.

Abstract

We present a case of a 26-year-old female patient with bloating, postprandial nausea and recurrent vomiting after solid food intake. A gastric emptying scintigraphy showed a delayed gastric emptying, defining gastroparesis. Because of her past medical history of short stature and pulmonary stenosis, we initiated genetic counseling where the diagnosis of Noonan syndrome was made. Dietary therapy and medication with domperidone quickly led to relief of the discomfort due to gastroparesis. However, prokinetics are not indicated for long-term therapy, as cardiac arrhythmia may occur. A risk-benefit assessment should be done. There are several novel approaches which need to be further investigated.

Schlüsselwörter

gastrointestinale Motilität - Magenentleerung - Motilitätsstörung - Achalasie - Noonan

Key words

gastrointestinal motility - gastric emptying - motility disorder - achalasia - Noonan syndrome

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