Autoimmunity related to anti-Nax and anti-ZSCAN1 autoantibodies in adipsic hypernatremia

IF 1.3 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM
Akari Nakamura-Utsunomiya
{"title":"Autoimmunity related to anti-Nax and anti-ZSCAN1 autoantibodies in adipsic hypernatremia","authors":"Akari Nakamura-Utsunomiya","doi":"10.1507/endocrj.ej24-0058","DOIUrl":null,"url":null,"abstract":"</p><p>“Adipsic hypernatremia” is clinically characterized by chronic elevation of plasma [Na<sup>+</sup>] with an inappropriate lack of thirst and upward resetting of the osmotic set point for arginine vasopressin (AVP) secretion, combined with a relative deficiency of AVP, thereby resulting in persistent hypernatremia. Many cases are accompanied by structural lesions in the hypothalamus, pituitary gland, and circumventricular organs (CVOs). On the other hand, cases without structural lesions have been reported since the 1970s, but the pathophysiology was unknown for a long time. In 2010, Hiyama <i>et al.</i> reported that an anti-Na<sub>x</sub> antibody response caused adipsic hypernatremia in a pediatric case with ganglioblastoma. In recent years, advances in clinical research have led researchers to recognize that an autoimmunological pathogenic mechanism might be associated with periventricular organs such as the subfornical organ (SFO). In addition, in pediatric cases diagnosed as ROHHAD (rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation) syndrome, it has been reported that half of the cases have abnormal serum Na levels, and some research findings indicated an autoimmune mechanism acting on the organs of the hypothalamus and CVOs. Then, anti-ZSCAN1 antibody response was detected in cases diagnosed as ROHHAD-NET in 2022. In this review, by summarizing a series of studies on Na<sub>x</sub> and ZSCAN1, which are expressed in the hypothalamus, pituitary gland, and SFO, I would like to describe the current findings of the autoimmune pathogenesis of adipsic hypernatremia.</p>\n<p></p>","PeriodicalId":11631,"journal":{"name":"Endocrine journal","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2024-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Endocrine journal","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1507/endocrj.ej24-0058","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 0

Abstract

“Adipsic hypernatremia” is clinically characterized by chronic elevation of plasma [Na+] with an inappropriate lack of thirst and upward resetting of the osmotic set point for arginine vasopressin (AVP) secretion, combined with a relative deficiency of AVP, thereby resulting in persistent hypernatremia. Many cases are accompanied by structural lesions in the hypothalamus, pituitary gland, and circumventricular organs (CVOs). On the other hand, cases without structural lesions have been reported since the 1970s, but the pathophysiology was unknown for a long time. In 2010, Hiyama et al. reported that an anti-Nax antibody response caused adipsic hypernatremia in a pediatric case with ganglioblastoma. In recent years, advances in clinical research have led researchers to recognize that an autoimmunological pathogenic mechanism might be associated with periventricular organs such as the subfornical organ (SFO). In addition, in pediatric cases diagnosed as ROHHAD (rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation) syndrome, it has been reported that half of the cases have abnormal serum Na levels, and some research findings indicated an autoimmune mechanism acting on the organs of the hypothalamus and CVOs. Then, anti-ZSCAN1 antibody response was detected in cases diagnosed as ROHHAD-NET in 2022. In this review, by summarizing a series of studies on Nax and ZSCAN1, which are expressed in the hypothalamus, pituitary gland, and SFO, I would like to describe the current findings of the autoimmune pathogenesis of adipsic hypernatremia.

肾性高钠血症中与抗Nax和抗ZSCAN1自身抗体相关的自身免疫性
"Adipsic 高钠血症 "的临床特征是血浆[Na+]长期升高,不适当地缺乏口渴感,精氨酸血管加压素(AVP)分泌的渗透压设定点向上重置,同时 AVP 相对缺乏,从而导致持续性高钠血症。许多病例伴有下丘脑、垂体和环状器官(CVOs)的结构性病变。另一方面,无结构性病变的病例早在 20 世纪 70 年代就有报道,但病理生理学长期不明。2010 年,Hiyama 等人报道了一例患有神经节母细胞瘤的儿科病例,其抗 Nax 抗体反应导致了 adipsic 高钠血症。近年来,临床研究的进展使研究人员认识到,自身免疫致病机制可能与角膜下器官(SFO)等脑室周围器官有关。此外,在被诊断为 ROHHAD(快速肥胖伴通气不足、下丘脑功能障碍、自主神经失调)综合征的儿科病例中,有报道称半数病例的血清 Na 水平异常,一些研究结果表明其自身免疫机制作用于下丘脑和 CVOs 器官。随后,在 2022 年被诊断为 ROHHAD-NET 的病例中检测到了抗 ZSCAN1 抗体反应。在这篇综述中,笔者总结了一系列关于在下丘脑、垂体和SFO中表达的Nax和ZSCAN1的研究,描述了目前关于附睾炎性高钠血症自身免疫发病机制的研究结果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
Endocrine journal
Endocrine journal 医学-内分泌学与代谢
CiteScore
4.30
自引率
5.00%
发文量
224
审稿时长
1.5 months
期刊介绍: Endocrine Journal is an open access, peer-reviewed online journal with a long history. This journal publishes peer-reviewed research articles in multifaceted fields of basic, translational and clinical endocrinology. Endocrine Journal provides a chance to exchange your ideas, concepts and scientific observations in any area of recent endocrinology. Manuscripts may be submitted as Original Articles, Notes, Rapid Communications or Review Articles. We have a rapid reviewing and editorial decision system and pay a special attention to our quick, truly scientific and frequently-citable publication. Please go through the link for author guideline.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信