中国研究型医院学会罕见病分会, 中国罕见病联盟, 北京罕见病诊疗与保障学会, Gitelman综合征中国专家组. Gitelman综合征诊疗中国专家共识(2021版)[J]. 罕见病研究, 2022, 1(1): 56-67. DOI: 10.12376/j.issn.2097-0501.2022.01.010
引用本文: 中国研究型医院学会罕见病分会, 中国罕见病联盟, 北京罕见病诊疗与保障学会, Gitelman综合征中国专家组. Gitelman综合征诊疗中国专家共识(2021版)[J]. 罕见病研究, 2022, 1(1): 56-67. DOI: 10.12376/j.issn.2097-0501.2022.01.010
Rare Diseases Society of Chinese Research Hospital Association, China Alliance for Rare Disease, Beijing Society of Rare Disease Clinical Care and Accessibility, Gitelman Syndrome Consensus Working Group. Expert Consensus for the Diagnosis and Treatment of Gitelman Syndrome in China (2021)[J]. Journal of Rare Diseases, 2022, 1(1): 56-67. DOI: 10.12376/j.issn.2097-0501.2022.01.010
Citation: Rare Diseases Society of Chinese Research Hospital Association, China Alliance for Rare Disease, Beijing Society of Rare Disease Clinical Care and Accessibility, Gitelman Syndrome Consensus Working Group. Expert Consensus for the Diagnosis and Treatment of Gitelman Syndrome in China (2021)[J]. Journal of Rare Diseases, 2022, 1(1): 56-67. DOI: 10.12376/j.issn.2097-0501.2022.01.010
  • 摘要: 近年来,国内对Gitelman综合征的研究取得了长足进步,中国人群Gitelman综合征新的临床表型、疾病分型、改良功能试验、生物标志物和特殊人群管理经验相继在国内外期刊报道。基于最新循证医学证据,多学科领域专家在Gitelman综合征的临床表型、诊断、治疗、慢性并发症及合并症管理方面达成一致共识,为临床规范化诊疗提供了重要依据。

     

    Abstract: In recent years, research on the clinical phenotypes, new classifications, modified functional tests, biomarkers and management experience for patients with Gitelman syndrome (GS)has made a lot of progress in China. Based on evidence-based medicine, this consensus summarizes aspects related to GS, including clinical manifestations and classification, diagnosis, treatment strategies, and management of chronic complica-tions and comorbidity. This consensus provides an important reference for the diagnosis and treatment of GS.

     

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