Das Prader-Labhart-Willi-Syndrom (PWS)

Zusammenfassung

Genetische Erkrankungen, die mit Adipositas einhergehen, sind nicht selten. Viele dieser Adipositas-Syndrome weisen ein charakteristisches Präsentationsalter, einen komplexen Phänotyp, zum Teil aber auch eine überlappende klinische Symptomatologie auf. Letztere Tatsache unterstreicht, dass bei einigen dieser Syndrome gemeinsame zelluläre Signalübertragungswege gestört und betroffen sind. Die Ursache der Adipositas ist zumeist eine gestörte Appetit- und Sättigungsregulation im Zentralnervensystem (Hypothalamus). Wenn die genetischen Hintergründe dieser Syndrome einmal komplett verstanden sind, werden neue Ursachen-bezogene Therapien verfügbar sein. Das Prader-Labhart-Willi-Syndrom (PWS) ist das häufigste Adipositas-Syndrom und wird durch einen Verlust an „Imprinted”-Genen auf dem Chromosom 15q11-13 verursacht. Die Häufigkeit des PWS beläuft sich auf ca. 1 in 30.000 Lebendgeborenen. Weitere genetische Adipositas-Syndrome sind zum Beispiel das Alström-Syndrom, das Cohen-Syndrom, die Albright’s hereditäre Osteodystrophie (Pseudohypopa-rathyreoidismus) und das Carpenter-Syndrom. Außerdem gehören das MOMO-Syndrom, das Rubinstein-Taybi-Syndrom und Deletionen auf den Chromosomen 1, 2, 6 und 9 sowie weitere genetische Syndrome zu den Adipositas-Syndromen. Im Neugeborenenalter und in der frühen Kindheit sind eine auffallende muskuläre Hypotonie, typische faziale Auffälligkeiten wie mandelförmige Augen, sowie eine helle Hautfarbe und schmale Finger und Zehen hinweisend. Im Kleinkindes- und im Schulkindalter fallen eine zunehmende Hyperphagie mit der daraus folgenden Adipositas und die kognitiven Defizite mit Sprachverzögerung und verzögertem Erreichen der Entwicklungs-Meilensteine auf. Im späten Schulalter sind neben der mentalen Retardierung Verhaltensauffälligkeiten für die Familien der Betroffenen belastend. Hypogonadismus oder eine zu früh einsetzende Pubertät mit späterem Abbrechen der Pubertätsentwicklung oder ein PWS-assoziierter Diabetes kommen häufig vor. Multidisziplinäre Therapiestrategien umfassen Physio- und Ergotherapie, Logopädie, eine bereits früh zu beginnende Wachstums-Hormontherapie, begleitende Betreuung an einem Sozialpädiatrischen Zentrum mit Zugang zu sozialmedizinischer Versorgung mit Sozialarbeit und der Mitarbeit von Psychologen und Kinder- und Jugendpsychiatern sind heute der Standard in der Betreuung von PatientInnen mit PWS und ihren Familien. Die deutsche Prader-Willi-Vereinigung ist eine Selbsthilfegruppe mit einem breiten Netzwerk von betroffenen Familien und Unterstützern. Sie bietet hervorragende Hilfsstrategien und Unterstützung für Betroffene und ihre Familien. In der hier vorliegenden kurzen Abhandlung sollen wichtige Kerndaten zum PWS für die Früherkennung und praktische Arbeit mit den Betroffenen zusammengefasst werden.

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