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Erschienen in: Monatsschrift Kinderheilkunde 5/2018

28.02.2018 | Kindliche Adipositas | Leitthema

Monogene Adipositas

Neue diagnostische und therapeutische Möglichkeiten

verfasst von: Dr. J. von Schnurbein, G. Borck, A. Hinney, M. Wabitsch

Erschienen in: Monatsschrift Kinderheilkunde | Ausgabe 5/2018

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Zusammenfassung

Biallelische Mutationen in den Genen für Leptin (LEP), Leptinrezeptor (LEPR), Proopiomelanokortin (POMC) und Prohormonkonvertase 1/3 (PC1/3, vereinfacht PC1, genannt, Gen: PCSK1) führen zu einer ausgeprägten, autosomal-rezessiv vererbten, frühkindlichen Adipositas. Patienten mit biologisch inaktivem Leptin oder Leptinmangel können mit humanem rekombinantem Leptin erfolgreich behandelt werden. Für Patienten mit POMC-Mutationen hat sich die Behandlung mit einem α‑Melanozyten-stimulierenden-Hormon(α-MSH)-Analogon als erfolgreich erwiesen; für Patienten mit Mutationen in LEPR, PCSK1 und dem Gen des Melanokortin-4-Rezeptors (MC4R) befindet sich dieses Medikament derzeit in Erprobung. Mono- und biallelische Mutationen in MC4R stellen die häufigste Form der monogenen Adipositas dar. Es sind inzwischen Mutationen in weiteren Genen identifiziert worden, die ebenfalls mit einer ausgeprägten (autosomal-dominant vererbten) Adipositas assoziiert sind. Die meisten dieser Mutationen liegen in Genen, die in die Signalübermittlung des Leptin-Melanokortin-Signalwegs involviert sind. Bei Patienten mit extremer frühkindlicher Adipositas sollte eine molekulargenetische Diagnostik eingeleitet werden, da eine Diagnosestellung für die Betroffenen und ihre Familien eine Erleichterung bedeuten und einigen Patienten sogar eine kausale Therapie angeboten werden kann. Zusätzlich gewinnen die Familien Klarheit darüber, wie wahrscheinlich es ist, dass zukünftige Geschwister ebenfalls betroffen sein werden.
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Metadaten
Titel
Monogene Adipositas
Neue diagnostische und therapeutische Möglichkeiten
verfasst von
Dr. J. von Schnurbein
G. Borck
A. Hinney
M. Wabitsch
Publikationsdatum
28.02.2018
Verlag
Springer Medizin
Erschienen in
Monatsschrift Kinderheilkunde / Ausgabe 5/2018
Print ISSN: 0026-9298
Elektronische ISSN: 1433-0474
DOI
https://doi.org/10.1007/s00112-018-0461-y