Battin Jacques
L'Académie nationale de médecine.
Bull Acad Natl Med. 2009 Jun;193(6):1281-8.
Polygenic obesity is increasingly frequent in childhood. Rare monogenic, non syndromic forms are of special physiopathological interest. They are due to recessive or dominant leptinlreceptor deficits, pro-opiomelanocortin deficit, or 4-melanocortin deficit. Genetic obesity syndromes include the Bardet-Biedl, Cohen, Albright, Alstrom, MOMA and Prader- Willi syndromes. The latter, first described in 1956, is the most frequent (1/10 000). It is associated with severe early-onset obesity, morbid hunger, and ante and postnatal hypotonia. It is due to microdeletion of paternal chromosome 15 (15qll-ql3) or to uniparental maternal disomy. This is the föirst human example of genomic imprinting and monoallelic gene expression. Early diagnosis is essential for effective therapeutic management.
多基因肥胖在儿童期越来越常见。罕见的单基因非综合征型肥胖具有特殊的生理病理学意义。它们是由隐性或显性瘦素受体缺陷、促肾上腺皮质激素原缺陷或黑皮质素-4缺陷引起的。遗传性肥胖综合征包括巴德-比埃尔综合征、科恩综合征、奥尔布赖特综合征、阿尔斯特伦综合征、MOMA综合征和普拉德-威利综合征。后者于1956年首次被描述，是最常见的（1/10000）。它与严重的早发性肥胖、病态饥饿以及产前和产后肌张力减退有关。它是由于父源15号染色体（15qll-ql3）微缺失或母源单亲二体所致。这是基因组印记和单等位基因表达的首个人类实例。早期诊断对于有效的治疗管理至关重要。
