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自身免疫性垂体在普拉德-威利综合征中的作用:进一步研究的新视角。

Autoimmune pituitary involvement in Prader-Willi syndrome: new perspective for further research.

机构信息

Division of Auxology, Istituto Auxologico Italiano, IRCCS, Piancavallo, Verbania, Italy.

Autoimmune Endocrine Diseases Unit, Bambino Gesù Children's Hospital, Research Institute, Rome, Italy.

出版信息

Endocrine. 2018 Dec;62(3):733-736. doi: 10.1007/s12020-018-1666-5. Epub 2018 Jul 2.

DOI:10.1007/s12020-018-1666-5
PMID:29968227
Abstract

The role of antipituitary antibodies in the pathophysiology of pituitary hormone deficiency has been increasingly elucidated over the last decade. Prader-Willi syndrome is a genetic disorder which includes hypothalamic/pituitary dysfunction as one of its main features. We looked for autoimmune pituitary involvement in 55 adults with Prader-Willi syndrome, discovering that about 30% of them have a positive titer of antipituitary antibodies. Although the presence of these autoantibodies could only be an "epiphenomenon", our results suggest that autoimmune mechanisms might contribute, at least in part, to the pituitary impairment of Prader-Willi syndrome, and in addition to genetically determined dysfunction of the central nervous system. This paper provides a new perspective on pituitary impairment in these patients, suggesting that the search for hypophisitis could be a reasonable and interesting field for further research.

摘要

在过去的十年中,抗垂体抗体在垂体激素缺乏症的病理生理学中的作用逐渐得到阐明。普拉德-威利综合征是一种遗传性疾病,其主要特征之一是下丘脑/垂体功能障碍。我们在 55 名普拉德-威利综合征成年患者中寻找自身免疫性垂体受累,发现约 30%的患者存在抗垂体抗体的阳性滴度。尽管这些自身抗体的存在可能只是一种“伴随现象”,但我们的研究结果表明,自身免疫机制可能至少部分地导致了普拉德-威利综合征的垂体损伤,而不仅仅是中枢神经系统的遗传功能障碍。本文为这些患者的垂体损伤提供了一个新的视角,提示寻找垂体炎可能是进一步研究的一个合理且有趣的领域。

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Autoimmune pituitary involvement in Prader-Willi syndrome: new perspective for further research.自身免疫性垂体在普拉德-威利综合征中的作用:进一步研究的新视角。
Endocrine. 2018 Dec;62(3):733-736. doi: 10.1007/s12020-018-1666-5. Epub 2018 Jul 2.
2
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Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome.激素原转化酶PC1缺乏会损害普拉德-威利综合征中的激素原加工过程。
J Clin Invest. 2017 Jan 3;127(1):293-305. doi: 10.1172/JCI88648. Epub 2016 Dec 12.
2
Revisitation of autoimmune hypophysitis: knowledge and uncertainties on pathophysiological and clinical aspects.自身免疫性垂体炎的再审视:对其病理生理学和临床方面的认识和不确定性。
Pituitary. 2016 Dec;19(6):625-642. doi: 10.1007/s11102-016-0736-z.
3
Longitudinal behavior of autoimmune GH deficiency: from childhood to transition age.
普拉德-威利综合征患者的脑电图模式
Brain Sci. 2021 Aug 6;11(8):1045. doi: 10.3390/brainsci11081045.
4
Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence.儿童和青少年特定遗传性综合征中的自身免疫性甲状腺疾病。
Front Endocrinol (Lausanne). 2020 Aug 19;11:543. doi: 10.3389/fendo.2020.00543. eCollection 2020.
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Hypopituitarism manifesting after invasive dental treatment in a patient with carcinoma of the tongue: a case report.侵袭性牙科治疗后表现为垂体功能减退症的舌癌患者:病例报告。
BMC Oral Health. 2020 Apr 15;20(1):106. doi: 10.1186/s12903-020-01082-x.
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Antibodies Against Hypothalamus and Pituitary Gland in Childhood-Onset Brain Tumors and Pituitary Dysfunction.儿童期脑肿瘤与垂体功能障碍中针对下丘脑和垂体的抗体
Front Endocrinol (Lausanne). 2020 Feb 18;11:16. doi: 10.3389/fendo.2020.00016. eCollection 2020.
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Impact of Pituitary Autoimmunity and Genetic Disorders on Growth Hormone Deficiency in Children and Adults.垂体自身免疫和遗传疾病对儿童和成人生长激素缺乏症的影响。
Int J Mol Sci. 2020 Feb 19;21(4):1392. doi: 10.3390/ijms21041392.
自身免疫性生长激素缺乏症的纵向行为:从儿童期到过渡年龄。
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