Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Mount Sinai Hospital, Diabetes, Obesity, and Metabolism Institute, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place, New York, NY 10029, USA.
Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Mount Sinai Hospital, Diabetes, Obesity, and Metabolism Institute, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, 1 Gustave L. Levy Place, New York, NY 10029, USA.
Pediatr Clin North Am. 2024 Oct;71(5):897-917. doi: 10.1016/j.pcl.2024.06.001. Epub 2024 Jul 9.
Understanding the genetic causes of obesity permits anticipatory guidance and targeted treatments. Children with hyperphagia and severe early-onset obesity should receive genetic testing for rare monogenic and syndromic disorders caused by pathogenic variants involving a single gene or single chromosomal region. Gene panels covering the leptin pathway, the key regulator of energy balance, are becoming more widely available and at lower cost. Polygenic obesity is much more common and involves multiple genes throughout the genome, although the overlap in genes for rare and common disorders suggests a spectrum of severity and the potential of shared precision medicine approaches for treatment.
了解肥胖的遗传原因可以进行预期指导和有针对性的治疗。对于贪食和严重早发性肥胖的儿童，应进行遗传检测，以发现由涉及单个基因或单个染色体区域的致病性变异引起的罕见单基因和综合征疾病。涵盖瘦素途径的基因面板，是能量平衡的关键调节剂，越来越普及，成本也越来越低。多基因肥胖更为常见，涉及整个基因组中的多个基因，尽管罕见和常见疾病的基因重叠表明存在严重程度的范围，并为治疗提供了潜在的共享精准医学方法。
