Department of Paediatrics, University of Chieti, Chieti, Italy.
Paediatric Department, Stoke Mandeville Hospital, Thames Valley Deanery, Oxford, UK.
Eur J Pediatr. 2023 Nov;182(11):4781-4793. doi: 10.1007/s00431-023-05159-x. Epub 2023 Aug 23.
Obesity represents a major health problem in the pediatric population with an increasing prevalence worldwide, associated with cardiovascular and metabolic disorders, and due to both genetic and environmental factors. Rare forms of obesity are mostly monogenic, and less frequently due to polygenic influence. Polygenic form of obesity is usually the common obesity with single gene variations exerting smaller impact on weight and is commonly non-syndromic.Non-syndromic monogenic obesity is associated with variants in single genes typically related to the hypothalamic leptin-melanocortin signalling pathway, which plays a key role in hunger and satiety regulation, thus body weight control. Patients with these genetic defects usually present with hyperphagia and early-onset severe obesity. Significant progress in genetic diagnostic testing has recently made for early identification of patients with genetic obesity, which guarantees prompt intervention in terms of therapeutic management of the disease. What is Known: • Obesity represents a major health problem among children and adolescents, with an increasing prevalence worldwide, associated with cardiovascular disease and metabolic abnormalities, and it can be due to both genetic and environmental factors. • Non-syndromic monogenic obesity is linked to modifications in single genes usually involved in the hypothalamic leptin-melanocortin signalling pathway, which plays a key role in hunger and satiety regulation. What is New: • The increasing understanding of rare forms of monogenic obesity has provided significant insights into the genetic causes of pediatric obesity, and our current knowledge of the various genes associated with childhood obesity is rapidly expanding. • A useful diagnostic algorithm for early identification of genetic obesity has been proposed, which can ensure a prompt intervention in terms of therapeutic management of the disease and an early prevention of the development of associated metabolic conditions.
肥胖症在儿科人群中是一个主要的健康问题，在全球范围内患病率不断增加，与心血管和代谢紊乱有关，并且与遗传和环境因素都有关。罕见形式的肥胖症主要是单基因的，较少是由于多基因影响。肥胖症的多基因形式通常是常见的肥胖症，单基因变异对体重的影响较小，通常是非综合征性的。非综合征性单基因肥胖症与单个基因的变异有关，这些基因通常与下丘脑瘦素-黑素皮质素信号通路有关，该通路在饥饿和饱腹感调节中起着关键作用，从而控制体重。这些遗传缺陷的患者通常表现为食欲过盛和早发性严重肥胖。最近，在遗传诊断测试方面取得了重大进展，以便早期识别遗传肥胖症患者，从而保证在疾病的治疗管理方面及时进行干预。已知内容：
肥胖症是儿童和青少年的一个主要健康问题，在全球范围内患病率不断增加，与心血管疾病和代谢异常有关，可能与遗传和环境因素都有关。
非综合征性单基因肥胖症与单个基因的改变有关，这些基因通常涉及下丘脑瘦素-黑素皮质素信号通路，该通路在饥饿和饱腹感调节中起着关键作用。
对罕见形式的单基因肥胖症的认识不断加深，为儿科肥胖症的遗传原因提供了重要的见解，我们目前对与儿童肥胖症相关的各种基因的了解正在迅速扩大。
提出了一种用于早期识别遗传肥胖症的有用诊断算法，这可以确保在疾病的治疗管理方面及时进行干预，并早期预防相关代谢疾病的发生。
