P. Mulatero, Ute I Scholl, Carlos E Fardella, Evangelia Charmandari, Andrzej Januszewicz, M. Reincke, Celso E. Gomez-Sanchez, Michael Stowasser, Olaf M Dekkers
{"title":"家族性醛固酮增多症:ENDO ERN 临床实践指南。","authors":"P. Mulatero, Ute I Scholl, Carlos E Fardella, Evangelia Charmandari, Andrzej Januszewicz, M. Reincke, Celso E. Gomez-Sanchez, Michael Stowasser, Olaf M Dekkers","doi":"10.1093/ejendo/lvae041","DOIUrl":null,"url":null,"abstract":"We describe herein the European Reference Network on Rare Endocrine Conditions (Endo-ERN)- clinical practice guideline on diagnosis and management of familial forms of hyperaldosteronism. The guideline panel consisted of 10 experts in primary aldosteronism, endocrine hypertension, pediatric endocrinology and cardiology as well as a methodologist. A systematic literature search was conducted, and because of the rarity of the condition, most recommendations were based on expert opinion and small patient series. The guideline includes a brief description of the genetics and molecular pathophysiology associated with each condition, the patients to be screened and how to screen. Diagnostic and treatment approaches for patients with genetically determined diagnosis are presented. The recommendations apply to patients with genetically proven familial hyperaldosteronism and not to families with more than one case of PA without demonstration of a responsible pathogenic variant.","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":null,"pages":null},"PeriodicalIF":5.3000,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Familial Hyperaldosteronism: an ENDO ERN Clinical Practice Guideline.\",\"authors\":\"P. Mulatero, Ute I Scholl, Carlos E Fardella, Evangelia Charmandari, Andrzej Januszewicz, M. Reincke, Celso E. Gomez-Sanchez, Michael Stowasser, Olaf M Dekkers\",\"doi\":\"10.1093/ejendo/lvae041\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"We describe herein the European Reference Network on Rare Endocrine Conditions (Endo-ERN)- clinical practice guideline on diagnosis and management of familial forms of hyperaldosteronism. The guideline panel consisted of 10 experts in primary aldosteronism, endocrine hypertension, pediatric endocrinology and cardiology as well as a methodologist. A systematic literature search was conducted, and because of the rarity of the condition, most recommendations were based on expert opinion and small patient series. The guideline includes a brief description of the genetics and molecular pathophysiology associated with each condition, the patients to be screened and how to screen. Diagnostic and treatment approaches for patients with genetically determined diagnosis are presented. The recommendations apply to patients with genetically proven familial hyperaldosteronism and not to families with more than one case of PA without demonstration of a responsible pathogenic variant.\",\"PeriodicalId\":11884,\"journal\":{\"name\":\"European Journal of Endocrinology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":5.3000,\"publicationDate\":\"2024-04-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European Journal of Endocrinology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1093/ejendo/lvae041\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European Journal of Endocrinology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1093/ejendo/lvae041","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 0
摘要
我们在此介绍欧洲罕见内分泌疾病参考网络(Endo-ERN)--家族性醛固酮增多症诊断和管理临床实践指南。指南小组由原发性醛固酮增多症、内分泌高血压、儿科内分泌学和心脏病学的 10 位专家以及一位方法论专家组成。该指南进行了系统的文献检索,由于该病罕见,大多数建议都是基于专家意见和小型患者系列。指南中简要介绍了与每种疾病相关的遗传学和分子病理生理学、需要筛查的患者以及筛查方法。指南还介绍了针对基因诊断患者的诊断和治疗方法。这些建议适用于经遗传学证实的家族性高醛固酮症患者,不适用于有一个以上 PA 病例但未证明有致病变异的家族。
Familial Hyperaldosteronism: an ENDO ERN Clinical Practice Guideline.
We describe herein the European Reference Network on Rare Endocrine Conditions (Endo-ERN)- clinical practice guideline on diagnosis and management of familial forms of hyperaldosteronism. The guideline panel consisted of 10 experts in primary aldosteronism, endocrine hypertension, pediatric endocrinology and cardiology as well as a methodologist. A systematic literature search was conducted, and because of the rarity of the condition, most recommendations were based on expert opinion and small patient series. The guideline includes a brief description of the genetics and molecular pathophysiology associated with each condition, the patients to be screened and how to screen. Diagnostic and treatment approaches for patients with genetically determined diagnosis are presented. The recommendations apply to patients with genetically proven familial hyperaldosteronism and not to families with more than one case of PA without demonstration of a responsible pathogenic variant.
期刊介绍:
European Journal of Endocrinology is the official journal of the European Society of Endocrinology. Its predecessor journal is Acta Endocrinologica.
The journal publishes high-quality original clinical and translational research papers and reviews in paediatric and adult endocrinology, as well as clinical practice guidelines, position statements and debates. Case reports will only be considered if they represent exceptional insights or advances in clinical endocrinology.
Topics covered include, but are not limited to, Adrenal and Steroid, Bone and Mineral Metabolism, Hormones and Cancer, Pituitary and Hypothalamus, Thyroid and Reproduction. In the field of Diabetes, Obesity and Metabolism we welcome manuscripts addressing endocrine mechanisms of disease and its complications, management of obesity/diabetes in the context of other endocrine conditions, or aspects of complex disease management. Reports may encompass natural history studies, mechanistic studies, or clinical trials.
Equal consideration is given to all manuscripts in English from any country.