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一名黑素皮质素-4受体突变患者接受减肥手术后的五年预后

Five-year outcome of bariatric surgery in a patient with melanocortin-4 receptor mutation.

作者信息

Elkhenini H F, New J P, Syed A A

机构信息

Obesity Medicine and Endocrinology, Salford Royal NHS Foundation Trust and University Teaching Hospital, Salford, UK; The University of Manchester, Manchester, UK.

出版信息

Clin Obes. 2014 Apr;4(2):121-4. doi: 10.1111/cob.12051. Epub 2014 Mar 4.

DOI:10.1111/cob.12051
PMID:25826735
Abstract

Monogenic obesity is characterized by mutations in genes involved in the central regulation of food intake. Melanocortin-4 receptor (MC4R) mutations are the most frequent monogenic cause of severe early onset human obesity. Although bariatric surgery is the most effective therapy for idiopathic morbid obesity in adults, little is known about its effectiveness in patients with monogenic obesity syndromes. We report 5-year outcome of gastric bypass surgery in a young man with severe super-obesity associated with MC4R mutation. A 22-year-old man with a weight of 221.6 kg and body mass index of 76.7 kg m(-2) associated with a heterozygous MC4R mutation was referred to our centre for bariatric surgery. He underwent Roux-en-Y gastric bypass (RYGB) surgery and achieved weight loss of 76% of excess weight over a follow-up period of 58 months. Heterozygous MC4R mutations have been associated with dominantly inherited obesity in various ethnic groups, and non-surgical interventions are rarely effective in the long term. One previous report of bariatric surgery in a patient with complete MC4R deficiency reported poor weight loss after gastric banding. We speculate that patients with MC4R mutations achieve superior weight loss outcomes from procedures such as RYGB that produce neurohormonal changes rather than gastric restriction alone due to beneficial effects on appetite and satiety regulation.

摘要

单基因肥胖的特征是参与食物摄入中枢调节的基因突变。黑皮质素-4受体(MC4R)突变是严重早发性人类肥胖最常见的单基因病因。尽管减肥手术是治疗成人特发性病态肥胖最有效的方法,但对于单基因肥胖综合征患者其疗效知之甚少。我们报告了一名与MC4R突变相关的严重超级肥胖年轻男性接受胃旁路手术后5年的结果。一名体重221.6 kg、体重指数76.7 kg/m²且伴有杂合子MC4R突变的22岁男性被转诊至我们中心接受减肥手术。他接受了Roux-en-Y胃旁路(RYGB)手术,在58个月的随访期内体重减轻了超重部分的76%。杂合子MC4R突变在不同种族中与显性遗传肥胖有关,非手术干预长期效果不佳。之前一份关于一名MC4R完全缺乏患者接受减肥手术的报告显示,胃束带术后体重减轻效果不佳。我们推测,由于对食欲和饱腹感调节有有益作用,MC4R突变患者通过RYGB等产生神经激素变化而非单纯胃限制的手术可实现更好的体重减轻效果。

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