van den Berg Linda, Glorie-Docter Miriam, van den Akker Erica, Delemarre-van de Waal Henriette A
Leids Universitair Medisch Centrum, afd. Kindergeneeskunde, Leiden, the Netherlands.
Ned Tijdschr Geneeskd. 2012;156(32):A4548.
Obesity is usually the result of a combination of genetic and lifestyle factors. In monogenic obesity, overweight is caused by a single gene mutation. The most frequent form of monogenic obesity is caused by mutations in the gene that codes for the melanocortin-4 receptor (MC4R gene). Approximately 2% of Dutch children with obesity have a mutation in the MC4R gene. Children with homozygous and 'compound' heterozygous MC4R mutations have a phenotype distinguished by extreme overweight at an early age and hyperphagia. Children with heterozygous MC4R mutations have a more subtle phenotype and are difficult to distinguish clinically from obese children without this mutation. MC4R mutations can be identified by DNA diagnostics.- Drug treatment is not yet available for this condition.
肥胖通常是遗传因素和生活方式因素共同作用的结果。在单基因肥胖中，超重是由单个基因突变引起的。单基因肥胖最常见的形式是由编码黑皮质素-4受体的基因突变（MC4R基因）引起的。大约2%的荷兰肥胖儿童存在MC4R基因突变。具有纯合子和“复合”杂合子MC4R突变的儿童具有在幼年时极度超重和食欲亢进的特征性表型。具有杂合子MC4R突变的儿童表型较为隐匿，临床上难以与无此突变的肥胖儿童区分开来。MC4R突变可通过DNA诊断来识别。目前这种情况尚无药物治疗方法。
