Kostovski Marko, Tasic Velibor, Laban Nevena, Polenakovic Momir, Danilovski Dragan, Gucev Zoran
Faculty of Medicine, University "Ss. Cyril and Methodius", 50 Divizija BB,1000 Skopje, Republic of Macedonia.
Macedonia Academy of Science and Arts, Skopje, Republic of Macedonia.
Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2017 Dec 1;38(3):121-133. doi: 10.2478/prilozi-2018-0013.
Obesity and excess weight are a pandemic phenomenon in the modern world. Childhood and adolescent obesity often ends up in obesity in adults. The costs of obesity and its consequences are staggering for any society, crippling for countries in development. Childhood obesity is also widespread in Macedonia. Metabolic syndrome, dyslipidemia and carbohydrate intolerance are found in significant numbers. Parents and grandparents are often obese. Some of the children are either dysmorphic, or slightly retarded. We have already described patients with Prader-Willi syndrome, Bardet-Biedl syndrome or WAGR syndrome. A genetic screening for mutations in monogenic obesity in children with early, rapid-onset or severe obesity, severe hyperphagia, hypogonadism, intestinal dysfunction, hypopigmentation of hair and skin, postprandial hypoglycaemia, diabetes insipidus, abnormal leptin level and coexistence of lean and obese siblings in the family discovers many genetic forms of obesity. There are about 30 monogenic forms of obesity. In addition, obesity is different in ethnic groups, and the types of monogenic obesity differ. In brief, an increasing number of genes and genetic mechanisms in children continue to be discovered. This sheds new light on the molecular mechanisms of obesity and potentially gives a target for new forms of treatment.
肥胖和超重是现代世界的一种普遍现象。儿童期和青少年期肥胖往往会导致成人肥胖。肥胖及其后果给任何社会带来的代价都是惊人的,对发展中国家来说更是不堪重负。儿童肥胖在马其顿也很普遍。大量儿童存在代谢综合征、血脂异常和碳水化合物不耐受情况。父母和祖父母往往肥胖。一些儿童要么存在畸形,要么有轻度发育迟缓。我们已经描述过患有普拉德-威利综合征、巴德-比德尔综合征或WAGR综合征的患者。对患有早发、快速进展或严重肥胖、严重贪食、性腺功能减退、肠道功能障碍、毛发和皮肤色素减退、餐后低血糖、尿崩症、瘦素水平异常以及家族中瘦胖兄弟姐妹共存的儿童进行单基因肥胖突变的基因筛查,发现了许多肥胖的遗传形式。大约有30种单基因肥胖形式。此外,肥胖在不同种族群体中存在差异,单基因肥胖的类型也有所不同。简而言之,儿童中越来越多的基因和遗传机制不断被发现。这为肥胖的分子机制带来了新的认识,并可能为新的治疗形式提供靶点。