Department of Pediatrics, University of Florida, Gainesville, Florida, USA.
Curr Opin Pediatr. 2018 Aug;30(4):526-531. doi: 10.1097/MOP.0000000000000641.
Genetic obesity is responsible for up to 7% of severe childhood obesity. Although current Pediatric Endocrine Society guidelines recommend assessment of children with early-onset morbid obesity and hyperphagia for underlying genetic disorders, a vast majority of patients are not being appropriately screened for genetic obesity syndromes.
With advances in genetic testing, more genetic causes of obesity are being identified. Treatments are likely to be individualized, depending on the cause of the obesity, and must be targeted at addressing the underlying cause. Investigational therapies include melanocortin-4 receptor antagonists, oxytocin and medications targeting the endocannabinoid system.
Improved identification of patients with genetic obesity syndromes will lead to development of new treatments and personalized management of these diseases.
遗传性肥胖症占严重儿童肥胖症的比例高达 7%。尽管目前儿科内分泌学会指南建议对早发性病态肥胖和暴食症的儿童进行潜在遗传疾病的评估，但绝大多数患者并未接受适当的遗传性肥胖综合征筛查。
随着基因检测的进步，越来越多的肥胖原因被发现。治疗可能根据肥胖的原因个体化，并且必须针对根本原因。正在研究的治疗方法包括黑皮质素 4 受体拮抗剂、催产素和针对内源性大麻素系统的药物。
更好地识别出患有遗传性肥胖综合征的患者，将导致新的治疗方法的开发和对这些疾病的个性化管理。
