Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist

被引：332

作者：

Kuehnen, Peter ^{[1
]}

Clement, Karine ^{[7
]}

Wiegand, Susanna ^{[2
]}

Blankenstein, Oliver ^{[1
]}

Gottesdiener, Keith ^{[8
]}

Martini, Lea L. ^{[7
]}

Mai, Knut ^{[3
,4
,6
]}

Blume-Peytavi, Ulrike ^{[5
]}

Grueters, Annette ^{[2
]}

Krude, Heiko ^{[1
]}

机构：

[1] Charite, Inst Expt Pediat Endocrinol, Augustenburger Pl 1, D-13353 Berlin, Germany

[2] Charite, Dept Pediat Endocrinol & Diabet, Berlin, Germany

[3] Charite, Dept Endocrinol Diabet & Nutr, Berlin, Germany

[4] Charite, Charite Ctr Cardiovasc Res, Berlin, Germany

[5] Charite, Dept Dermatol & Allergy, Clin Res Ctr Hair & Skin Sci, Berlin, Germany

[6] Berlin Inst Hlth, Clin Res Unit, Berlin, Germany

[7] Univ Paris 06, Pitie Salpetriere Hosp, AP HP,Unite Mixte Rech Sci 1166, Inst Cardiometab & Nutr,Nutr Dept,INSERM,Sorbonne, Paris, France

[8] Rhythm Pharmaceut, Boston, MA USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2016年 / 375卷 / 03期

关键词：

CONGENITAL LEPTIN DEFICIENCY; EARLY-ONSET OBESITY; MUTATION; HUMANS; PIGMENTATION; DYSFUNCTION; GENE;

D O I：

10.1056/NEJMoa1512693

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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).

引用

页码：240 / 246

页数：7

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