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Adipositas - Ursachen, Folgeerkrankungen, Therapie 2018; 12(04): 168-175
DOI: 10.1055/s-0038-1676673
Übersichtsarbeit
Georg Thieme Verlag KG Stuttgart · New York

Syndromale Formen der Adipositas

Syndromal obesity
S. Weihrauch-Blüher
1   Universitätskinderklinik Halle /S., Department für Pädiatrie I, Halle/S
,
C. Vilser
1   Universitätskinderklinik Halle /S., Department für Pädiatrie I, Halle/S
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Publikationsverlauf

Publikationsdatum:
12. Dezember 2018 (online)

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Zusammenfassung

Genetische Mechanismen der Adipositas sind komplex und umfassen das Zusammenspiel verschiedener genetischer Faktoren mit der Umwelt. Der Einfluss genetischer Faktoren wird dabei aktuell auf 40–70 % geschätzt. Es gibt jedoch auch verschiedene syndromale Adipositasformen, die sowohl monogen als auch oligogen auftreten können. Diese syndromalen Adipositasformen haben bisher maßgeblich zu unserem Verständnis molekularer Mechanismen des Energiehaushaltes und des Sättigungsverhaltens zur Kontrolle des Körpergewichts beigetragen. Es sind bisher mehr als 50 solcher Adipositas-Syndrome beschrieben. Meist bestehen weitere spezifische klinische Merkmale wie mentale Retardierung, Dysmorphien, Störungen endokriner Achsen oder organspezifische Entwicklungsstörungen, die oft ein typisches Präsentationsalter aufweisen. Bezüglich der assoziierten klinischen Symptome besteht im Hinblick auf Häufigkeit oder Ausprägungsgrad eine erhebliche Varianz. Die Adipositas tritt oft stammbetont auf und ist so gut wie nie ein isoliertes Merkmal. Eine aktuelle Übersicht über die häufigsten Adipositas-assoziierten Syndrome sowie zur differentialdiagnostischen Vorgehensweise ist nachfolgend dargestellt.

Summary

The genetic mechanisms in obesity are complex and include the interaction between many genes and the environment. The heritability of the variance of body weight is estimated around 40 – 70%. However, there are several syndromic forms of obesity that might have a monogenic or oligogenic underpinning. These syndromal forms of obesity have provided substantial insight into our current understanding of molecular control of energy balance and satiety for body weight regulation. To date, more than 50 genetically based syndromes are described that share the cardinal symptom obesity. Syndromal obesity is frequently associated with additional clinical features such as mental retardation, dysmorphias, disruption of endocrine axes or developmental dysfunctions of distinct organs, which have often a characteristic age of incidence. There is a great variation of associated clinical symptoms with regard to phenotype and frequency of occurrence. In most syndromal forms of obesity, increased body weight does not present as an isolated symptom; it often occurs as truncal obesity. We present and overview of the most common syndromes associated with obesity as well as diagnostic aspects.

Schlüsselwörter

Prader-(Labhart)-Willi-Syndrom - Bardet-Biedl-Syndrom - Fragiles X-Syndrom - Alström-Syndrom - Differentialdiagnostik

Keywords

Prader-(Labhart)-Willi syndrome - Bardet-Biedl syndrome - Fragile X-syndrome - Alström syndrome - diagnostic curriculum
 

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