促肾上腺皮质激素释放激素缺乏症用促黑素细胞皮质素 4 受体激动剂治疗。
Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist.
机构信息
From the Institute for Experimental Pediatric Endocrinology (P.K., O.B., H.K.), the Department of Pediatric Endocrinology and Diabetes (S.W., A.G.), the Department of Endocrinology, Diabetes, and Nutrition and Charité Center for Cardiovascular Research (K.M.), and the Department of Dermatology and Allergy, Clinical Research Center for Hair and Skin Science (U.B.-P.), Charité-Universitätsmedizin Berlin, and the Clinical Research Unit, Berlin Institute of Health (K.M.) - all in Berlin; the Institute of Cardiometabolism and Nutrition, Assistance Publique-Hôpitaux de Paris, Nutrition Department, Pitié-Salpêtrière Hospital, INSERM-Sorbonne University, Université Pierre et Marie Curie, Unité Mixte de Recherche Scientifique 1166, Paris (K.C., L.L.M.); and Rhythm Pharmaceuticals, Boston (K.G.).
出版信息
N Engl J Med. 2016 Jul 21;375(3):240-6. doi: 10.1056/NEJMoa1512693.
Patients with rare defects in the gene encoding proopiomelanocortin (POMC) have extreme early-onset obesity, hyperphagia, hypopigmentation, and hypocortisolism, resulting from the lack of the proopiomelanocortin-derived peptides melanocyte-stimulating hormone and corticotropin. In such patients, adrenal insufficiency must be treated with hydrocortisone early in life. No effective pharmacologic treatments have been available for the hyperphagia and obesity that characterize the condition. In this investigator-initiated, open-label study, two patients with proopiomelanocortin deficiency were treated with setmelanotide, a new melanocortin-4 receptor agonist. The patients had a sustainable reduction in hunger and substantial weight loss (51.0 kg after 42 weeks in Patient 1 and 20.5 kg after 12 weeks in Patient 2).
患有编码前阿黑皮素原（POMC）基因罕见缺陷的患者会出现极度早发性肥胖、食欲过盛、色素减退和皮质醇不足，这是由于缺乏前阿黑皮素原衍生肽黑素细胞刺激素和促肾上腺皮质激素所致。在这些患者中，肾上腺功能不全必须在生命早期用氢化可的松治疗。对于该病症的特征性食欲过盛和肥胖，目前尚无有效的药物治疗方法。在这项由研究者发起的、开放性标签研究中，两名患有前阿黑皮素原缺乏症的患者接受了 setmelanotide（一种新的黑皮质素 4 受体激动剂）治疗。两名患者的饥饿感持续减轻，体重显著下降（患者 1 接受治疗 42 周后体重减轻 51.0 公斤，患者 2 接受治疗 12 周后体重减轻 20.5 公斤）。
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