下丘脑综合征

IF 76.9 1区 医学 Q1 MEDICINE, GENERAL & INTERNAL Nature Reviews Disease Primers Pub Date : 2022-04-21 DOI:10.1038/s41572-022-00351-z
Hermann L Müller, Maithé Tauber, Elizabeth A Lawson, Jale Özyurt, Brigitte Bison, Juan-Pedro Martinez-Barbera, Stephanie Puget, Thomas E Merchant, Hanneke M van Santen
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引用次数: 0

摘要

下丘脑综合征(HS)是一种罕见的疾病,由疾病和/或治疗对下丘脑造成的损伤引起,最常见的是与罕见的非肿瘤性椎旁肿块有关,如颅咽管瘤、生殖细胞瘤、胶质瘤、拉氏囊肿和朗格汉斯细胞组织细胞增生症,以及与遗传性神经发育综合征有关,如普拉德-威利综合征(Prader-Willi Syndrome)和中隔发育不良(septo-optic dysplasia)。HS的特点是难治性体重增加,伴有严重的病态肥胖、多种内分泌异常、记忆障碍、注意力缺陷和冲动控制能力下降,以及心血管和代谢紊乱风险增加。目前,这种病症尚无根治方法,但一般肥胖症的治疗方法通常用于 HS 患者,包括手术、药物和咨询。然而,这些疗法大多无效,也没有专门批准用于治疗 HS 的药物。HS所面临的具体挑战在于,该综合征是不同疾病的不良反应,而且HS的诊断标准、病因、发病机制和治疗方法尚未完全明确。
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Hypothalamic syndrome.

Hypothalamic syndrome (HS) is a rare disorder caused by disease-related and/or treatment-related injury to the hypothalamus, most commonly associated with rare, non-cancerous parasellar masses, such as craniopharyngiomas, germ cell tumours, gliomas, cysts of Rathke's pouch and Langerhans cell histiocytosis, as well as with genetic neurodevelopmental syndromes, such as Prader-Willi syndrome and septo-optic dysplasia. HS is characterized by intractable weight gain associated with severe morbid obesity, multiple endocrine abnormalities and memory impairment, attention deficit and reduced impulse control as well as increased risk of cardiovascular and metabolic disorders. Currently, there is no cure for this condition but treatments for general obesity are often used in patients with HS, including surgery, medication and counselling. However, these are mostly ineffective and no medications that are specifically approved for the treatment of HS are available. Specific challenges in HS are because the syndrome represents an adverse effect of different diseases, and that diagnostic criteria, aetiology, pathogenesis and management of HS are not completely defined.

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来源期刊
Nature Reviews Disease Primers
Nature Reviews Disease Primers Medicine-General Medicine
CiteScore
76.70
自引率
0.20%
发文量
75
期刊介绍: Nature Reviews Disease Primers, a part of the Nature Reviews journal portfolio, features sections on epidemiology, mechanisms, diagnosis, management, and patient quality of life. The editorial team commissions top researchers — comprising basic scientists and clinical researchers — to write the Primers, which are designed for use by early career researchers, medical students and principal investigators. Each Primer concludes with an Outlook section, highlighting future research directions. Covered medical specialties include Cardiology, Dermatology, Ear, Nose and Throat, Emergency Medicine, Endocrinology, Gastroenterology, Genetic Conditions, Gynaecology and Obstetrics, Hepatology, Haematology, Infectious Diseases, Maxillofacial and Oral Medicine, Nephrology, Neurology, Nutrition, Oncology, Ophthalmology, Orthopaedics, Psychiatry, Respiratory Medicine, Rheumatology, Sleep Medicine, and Urology.
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