Monogenic obesity in children in Slovakia
Authors:
D. Staníková 1,2; M. Sůrová 1; Ľ. Tichá 2; D. Lobotková 2; D. Gabčová 1; M. Škopková 1; I. Klimeš 1; J. Staník 1,2; D. Gašperíková 1
Authors place of work:
DIABGENE a Laboratórium diabetu a porúch metabolizmu, Ústav experimentálnej endokrinológie
Biomedicínske centrum SAV, Bratislava
1; Detská klinika LFUK a DFNsP, Bratislava
2
Published in the journal:
Čes-slov Pediat 2017; 72 (5): 293-300.
Category:
Original Papers
Summary
Background:
Monogenic obesity is caused by a mutation in on of the genes regulating leptin-melanocortin pathway, which is playing a key role by maintaining energetic homeostasis of organism, mainly inducing a feeling of satiety.
Aim:
The aim of this work is to conclude results of DNA analysis of monogenic obesity in laboratorium DIABGENE in years 2009–2015. This work is focused on etiology and epidemiology of the most frequent types of monogenic obesity in children.
Patients and methods:
DNA analysis of varios genes was performed together in 565 patients with a clinical suspicion of monogenic obesity to date. The suggested most frequent type of monogenic obesity (due to a mutation in melanocortin receptor 4 gene – MC4R) was analysed in 268 patients with obesity onset up to 11. years, without other specific clinical signs. In patients with more specific clinical signs (endocrinopathies, infections, decreased growth, red hair, hypocorticism and other) was performed DNA analysis of other genes (SIM1, LEP, LEPR, POMC) causing monogenic obesity.
Results:
We have found 2 probands (0.7%) with a MC4R mutation in our study. One mutation was found in SIM1 gene and no mutations in LEP, LEPR and POMC gene to date, reffering Slovakia to European countries with probably the lowest prevalence of monogenic obesity.
Conclusion:
Monogenic obesity is a rare cause of childhood obesity in Slovakia, however searching and diagnosing of these patients is very important, because of the need of specific management as well as real possibility of causal treatment today or in the future.
Key words:
monogenic obesity, MC4R, children, Slovak republik
Zdroje
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Štítky
Neonatology Paediatrics General practitioner for children and adolescentsČlánok vyšiel v časopise
Czech-Slovak Pediatrics
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